Canonical Allele Identifier: CA951241497
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875968815
gnomAD v3: 12-102866520-A-G
gnomAD v4: 12-102866520-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866520A>G , CM000674.2:g.102866520A>G GRCh38
NC_000012.11:g.103260298A>G , CM000674.1:g.103260298A>G GRCh37
NC_000012.10:g.101784428A>G NCBI36
NG_008690.1:g.56083T>C
NG_008690.2:g.96891T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+76T>C MANE Select ENSP00000448059.1:n.509+76T>C
ENST00000307000.7:c.494+76T>C ENSP00000303500.2:n.494+76T>C
ENST00000549111.5:n.605+76T>C
ENST00000551988.5:n.530+10942T>C
ENST00000553106.5:c.509+76T>C ENSP00000448059.1:n.509+76T>C
NM_000277.1:c.509+76T>C NP_000268.1:n.509+76T>C
XM_011538422.1:c.509+76T>C XP_011536724.1:n.509+76T>C
NM_000277.2:c.509+76T>C NP_000268.1:n.509+76T>C
NM_001354304.1:c.509+76T>C NP_001341233.1:n.509+76T>C
XM_017019370.2:c.509+76T>C XP_016874859.1:n.509+76T>C
NM_000277.3:c.509+76T>C MANE Select NP_000268.1:n.509+76T>C
NM_001354304.2:c.509+76T>C NP_001341233.1:n.509+76T>C
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