Canonical Allele Identifier: CA242485012
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs3062690
gnomAD v2: 12-103259861-G-GAAAAA
gnomAD v3: 12-102866083-G-GAAAAA
gnomAD v4: 12-102866083-G-GAAAAA
MyVariant Identifiers: chr12:g.103259861_103259862insAAAAA (hg19) chr12:g.102866083_102866084insAAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866091_102866095dup , CM000674.2:g.102866091_102866095dup GRCh38
NC_000012.11:g.103259869_103259873dup , CM000674.1:g.103259869_103259873dup GRCh37
NC_000012.10:g.101783999_101784003dup NCBI36
NG_008690.1:g.56515_56519dup
NG_008690.2:g.97323_97327dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+508_509+512dup MANE Select ENSP00000448059.1:n.509+508_509+512dup
ENST00000307000.7:c.494+508_494+512dup ENSP00000303500.2:n.494+508_494+512dup
ENST00000549111.5:n.605+508_605+512dup
ENST00000551988.5:n.531-10756_531-10752dup
ENST00000553106.5:c.509+508_509+512dup ENSP00000448059.1:n.509+508_509+512dup
NM_000277.1:c.509+508_509+512dup NP_000268.1:n.509+508_509+512dup
XM_011538422.1:c.509+508_509+512dup XP_011536724.1:n.509+508_509+512dup
NM_000277.2:c.509+508_509+512dup NP_000268.1:n.509+508_509+512dup
NM_001354304.1:c.509+508_509+512dup NP_001341233.1:n.509+508_509+512dup
XM_017019370.2:c.509+508_509+512dup XP_016874859.1:n.509+508_509+512dup
NM_000277.3:c.509+508_509+512dup MANE Select NP_000268.1:n.509+508_509+512dup
NM_001354304.2:c.509+508_509+512dup NP_001341233.1:n.509+508_509+512dup
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