Canonical Allele Identifier: CA607156361
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103259854-C-CAAAA
gnomAD v3: 12-102866076-C-CAAAA
gnomAD v4: 12-102866076-C-CAAAA
MyVariant Identifiers: chr12:g.103259854_103259855insAAAA (hg19) chr12:g.102866076_102866077insAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866077_102866078insAAAA , CM000674.2:g.102866077_102866078insAAAA GRCh38
NC_000012.11:g.103259855_103259856insAAAA , CM000674.1:g.103259855_103259856insAAAA GRCh37
NC_000012.10:g.101783985_101783986insAAAA NCBI36
NG_008690.1:g.56526_56527insTTTT
NG_008690.2:g.97334_97335insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+519_509+520insTTTT MANE Select ENSP00000448059.1:n.509+519_509+520insTTTT
ENST00000307000.7:c.494+519_494+520insTTTT ENSP00000303500.2:n.494+519_494+520insTTTT
ENST00000549111.5:n.605+519_605+520insTTTT
ENST00000551988.5:n.531-10745_531-10744insTTTT
ENST00000553106.5:c.509+519_509+520insTTTT ENSP00000448059.1:n.509+519_509+520insTTTT
NM_000277.1:c.509+519_509+520insTTTT NP_000268.1:n.509+519_509+520insTTTT
XM_011538422.1:c.509+519_509+520insTTTT XP_011536724.1:n.509+519_509+520insTTTT
NM_000277.2:c.509+519_509+520insTTTT NP_000268.1:n.509+519_509+520insTTTT
NM_001354304.1:c.509+519_509+520insTTTT NP_001341233.1:n.509+519_509+520insTTTT
XM_017019370.2:c.509+519_509+520insTTTT XP_016874859.1:n.509+519_509+520insTTTT
NM_000277.3:c.509+519_509+520insTTTT MANE Select NP_000268.1:n.509+519_509+520insTTTT
NM_001354304.2:c.509+519_509+520insTTTT NP_001341233.1:n.509+519_509+520insTTTT
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