Canonical Allele Identifier: CA6748860

Gene: PAH

Linked Data

• dbSNP Id: rs779379659
• ExAC: 12:103248775 T / C
• gnomAD v4: 12-102854997-T-C
• MyVariant Identifiers: chr12:g.103248775T>C (hg19) ; chr12:g.102854997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102854997T>C , CM000674.2:g.102854997T>C	GRCh38
NC_000012.11:g.103248775T>C , CM000674.1:g.103248775T>C	GRCh37
NC_000012.10:g.101772905T>C	NCBI36
NG_008690.1:g.67606A>G
NG_008690.2:g.108414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+139A>G MANE Select	ENSP00000448059.1:n.706+139A>G
ENST00000307000.7:c.691+139A>G	ENSP00000303500.2:n.691+139A>G
ENST00000549111.5:n.941A>G
ENST00000553106.5:c.706+139A>G	ENSP00000448059.1:n.706+139A>G
NM_000277.1:c.706+139A>G	NP_000268.1:n.706+139A>G
XM_011538422.1:c.706+139A>G	XP_011536724.1:n.706+139A>G
NM_000277.2:c.706+139A>G	NP_000268.1:n.706+139A>G
NM_001354304.1:c.706+139A>G	NP_001341233.1:n.706+139A>G
XM_017019370.2:c.706+139A>G	XP_016874859.1:n.706+139A>G
NM_000277.3:c.706+139A>G MANE Select	NP_000268.1:n.706+139A>G
NM_001354304.2:c.706+139A>G	NP_001341233.1:n.706+139A>G