Canonical Allele Identifier: CA386493059

Gene: PAH

Linked Data

• dbSNP Id: rs79931499
• gnomAD v4: 12-102840477-C-A
• MyVariant Identifiers: chr12:g.103234255C>A (hg19) ; chr12:g.102840477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840477C>A , CM000674.2:g.102840477C>A	GRCh38
NC_000012.11:g.103234255C>A , CM000674.1:g.103234255C>A	GRCh37
NC_000012.10:g.101758385C>A	NCBI36
NG_008690.1:g.82126G>T
NG_008690.2:g.122934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1238G>T MANE Select	ENSP00000448059.1:p.Arg413Leu
ENST00000307000.7:c.1223G>T	ENSP00000303500.2:p.Arg408Leu
ENST00000551114.2:n.900G>T
ENST00000553106.5:c.1238G>T	ENSP00000448059.1:p.Arg413Leu
ENST00000635477.1:c.342G>T
ENST00000635528.1:n.753G>T
NM_000277.1:c.1238G>T	NP_000268.1:p.Arg413Leu
XM_011538422.1:c.1181G>T	XP_011536724.1:p.Arg394Leu
NM_000277.2:c.1238G>T	NP_000268.1:p.Arg413Leu
NM_001354304.1:c.1238G>T	NP_001341233.1:p.Arg413Leu
NM_000277.3:c.1238G>T MANE Select	NP_000268.1:p.Arg413Leu
NM_001354304.2:c.1238G>T	NP_001341233.1:p.Arg413Leu