Canonical Allele Identifier: CA607156368
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1180465180
gnomAD v2: 12-103259866-A-AAAAG
MyVariant Identifiers: chr12:g.103259866_103259867insAAAG (hg19) chr12:g.102866088_102866089insAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866091_102866092insGAAA , CM000674.2:g.102866091_102866092insGAAA GRCh38
NC_000012.11:g.103259869_103259870insGAAA , CM000674.1:g.103259869_103259870insGAAA GRCh37
NC_000012.10:g.101783999_101784000insGAAA NCBI36
NG_008690.1:g.56514_56515insCTTT
NG_008690.2:g.97322_97323insCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+507_509+508insCTTT MANE Select ENSP00000448059.1:n.509+507_509+508insCTTT
ENST00000307000.7:c.494+507_494+508insCTTT ENSP00000303500.2:n.494+507_494+508insCTTT
ENST00000549111.5:n.605+507_605+508insCTTT
ENST00000551988.5:n.531-10757_531-10756insCTTT
ENST00000553106.5:c.509+507_509+508insCTTT ENSP00000448059.1:n.509+507_509+508insCTTT
NM_000277.1:c.509+507_509+508insCTTT NP_000268.1:n.509+507_509+508insCTTT
XM_011538422.1:c.509+507_509+508insCTTT XP_011536724.1:n.509+507_509+508insCTTT
NM_000277.2:c.509+507_509+508insCTTT NP_000268.1:n.509+507_509+508insCTTT
NM_001354304.1:c.509+507_509+508insCTTT NP_001341233.1:n.509+507_509+508insCTTT
XM_017019370.2:c.509+507_509+508insCTTT XP_016874859.1:n.509+507_509+508insCTTT
NM_000277.3:c.509+507_509+508insCTTT MANE Select NP_000268.1:n.509+507_509+508insCTTT
NM_001354304.2:c.509+507_509+508insCTTT NP_001341233.1:n.509+507_509+508insCTTT
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