Canonical Allele Identifier: CA242471469

Gene: PAH

Linked Data

• dbSNP Id: rs928806448
• gnomAD v3: 12-102852713-G-C
• gnomAD v4: 12-102852713-G-C
• MyVariant Identifiers: chr12:g.103246491G>C (hg19) ; chr12:g.102852713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852713G>C , CM000674.2:g.102852713G>C	GRCh38
NC_000012.11:g.103246491G>C , CM000674.1:g.103246491G>C	GRCh37
NC_000012.10:g.101770621G>C	NCBI36
NG_008690.1:g.69890C>G
NG_008690.2:g.110698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+102C>G MANE Select	ENSP00000448059.1:n.842+102C>G
ENST00000307000.7:c.827+102C>G	ENSP00000303500.2:n.827+102C>G
ENST00000549247.6:n.601+102C>G
ENST00000553106.5:c.842+102C>G	ENSP00000448059.1:n.842+102C>G
ENST00000635477.1:c.3+102C>G
NM_000277.1:c.842+102C>G	NP_000268.1:n.842+102C>G
XM_011538422.1:c.842+102C>G	XP_011536724.1:n.842+102C>G
NM_000277.2:c.842+102C>G	NP_000268.1:n.842+102C>G
NM_001354304.1:c.842+102C>G	NP_001341233.1:n.842+102C>G
NM_000277.3:c.842+102C>G MANE Select	NP_000268.1:n.842+102C>G
NM_001354304.2:c.842+102C>G	NP_001341233.1:n.842+102C>G