Canonical Allele Identifier: CA242509544
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs993110921
gnomAD v3: 12-102894688-A-C
gnomAD v4: 12-102894688-A-C
MyVariant Identifiers: chr12:g.103288466A>C (hg19) chr12:g.102894688A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894688A>C , CM000674.2:g.102894688A>C GRCh38
NC_000012.11:g.103288466A>C , CM000674.1:g.103288466A>C GRCh37
NC_000012.10:g.101812596A>C NCBI36
NG_008690.1:g.27915T>G
NG_008690.2:g.68723T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.352+47T>G MANE Select ENSP00000448059.1:n.352+47T>G
ENST00000307000.7:c.337+47T>G ENSP00000303500.2:n.337+47T>G
ENST00000548928.1:n.274+47T>G
ENST00000549111.5:n.448+47T>G
ENST00000550978.6:c.336+47T>G
ENST00000551337.5:c.352+47T>G ENSP00000447620.1:n.352+47T>G
ENST00000551988.5:n.441+47T>G
ENST00000553106.5:c.352+47T>G ENSP00000448059.1:n.352+47T>G
NM_000277.1:c.352+47T>G NP_000268.1:n.352+47T>G
XM_011538422.1:c.352+47T>G XP_011536724.1:n.352+47T>G
NM_000277.2:c.352+47T>G NP_000268.1:n.352+47T>G
NM_001354304.1:c.352+47T>G NP_001341233.1:n.352+47T>G
XM_017019370.2:c.352+47T>G XP_016874859.1:n.352+47T>G
NM_000277.3:c.352+47T>G MANE Select NP_000268.1:n.352+47T>G
NM_001354304.2:c.352+47T>G NP_001341233.1:n.352+47T>G
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