Canonical Allele Identifier: CA386302341

Gene: PAH

Linked Data

• dbSNP Id: rs1878253594
• gnomAD v3: 12-102912815-C-A
• gnomAD v4: 12-102912815-C-A
• COSMIC: COSM6232112
• MyVariant Identifiers: chr12:g.103306593C>A (hg19) ; chr12:g.102912815C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912815C>A , CM000674.2:g.102912815C>A	GRCh38
NC_000012.11:g.103306593C>A , CM000674.1:g.103306593C>A	GRCh37
NC_000012.10:g.101830723C>A	NCBI36
NG_008690.1:g.9788G>T
NG_008690.2:g.50596G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.144G>T MANE Select	ENSP00000448059.1:p.Leu48Phe
ENST00000307000.7:c.129G>T	ENSP00000303500.2:p.Leu43Phe
ENST00000546844.1:c.144G>T	ENSP00000446658.1:p.Leu48Phe
ENST00000548677.2:n.231G>T
ENST00000548928.1:n.66G>T
ENST00000549111.5:n.240G>T
ENST00000550978.6:c.128G>T
ENST00000551337.5:c.144G>T	ENSP00000447620.1:p.Leu48Phe
ENST00000551988.5:n.233G>T
ENST00000553106.5:c.144G>T	ENSP00000448059.1:p.Leu48Phe
ENST00000635500.1:n.112G>T
NM_000277.1:c.144G>T	NP_000268.1:p.Leu48Phe
XM_011538422.1:c.144G>T	XP_011536724.1:p.Leu48Phe
NM_000277.2:c.144G>T	NP_000268.1:p.Leu48Phe
NM_001354304.1:c.144G>T	NP_001341233.1:p.Leu48Phe
XM_017019370.2:c.144G>T	XP_016874859.1:p.Leu48Phe
NM_000277.3:c.144G>T MANE Select	NP_000268.1:p.Leu48Phe
NM_001354304.2:c.144G>T	NP_001341233.1:p.Leu48Phe