Canonical Allele Identifier: CA481331554

Gene: PAH

Linked Data

• dbSNP Id: rs1355030586
• gnomAD v2: 12-103246694-G-C
• gnomAD v4: 12-102852916-G-C
• MyVariant Identifiers: chr12:g.103246694G>C (hg19) ; chr12:g.102852916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852916G>C , CM000674.2:g.102852916G>C	GRCh38
NC_000012.11:g.103246694G>C , CM000674.1:g.103246694G>C	GRCh37
NC_000012.10:g.101770824G>C	NCBI36
NG_008690.1:g.69687C>G
NG_008690.2:g.110495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.741C>G MANE Select	ENSP00000448059.1:p.Gly247=
ENST00000307000.7:c.726C>G	ENSP00000303500.2:p.Gly242=
ENST00000549247.6:n.500C>G
ENST00000553106.5:c.741C>G	ENSP00000448059.1:p.Gly247=
NM_000277.1:c.741C>G	NP_000268.1:p.Gly247=
XM_011538422.1:c.741C>G	XP_011536724.1:p.Gly247=
NM_000277.2:c.741C>G	NP_000268.1:p.Gly247=
NM_001354304.1:c.741C>G	NP_001341233.1:p.Gly247=
NM_000277.3:c.741C>G MANE Select	NP_000268.1:p.Gly247=
NM_001354304.2:c.741C>G	NP_001341233.1:p.Gly247=