Canonical Allele Identifier: CA386492986

Gene: PAH

Linked Data

• gnomAD v4: 12-102840436-T-C
• MyVariant Identifiers: chr12:g.103234214T>C (hg19) ; chr12:g.102840436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840436T>C , CM000674.2:g.102840436T>C	GRCh38
NC_000012.11:g.103234214T>C , CM000674.1:g.103234214T>C	GRCh37
NC_000012.10:g.101758344T>C	NCBI36
NG_008690.1:g.82167A>G
NG_008690.2:g.122975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1279A>G MANE Select	ENSP00000448059.1:p.Thr427Ala
ENST00000307000.7:c.1264A>G	ENSP00000303500.2:p.Thr422Ala
ENST00000551114.2:n.941A>G
ENST00000553106.5:c.1279A>G	ENSP00000448059.1:p.Thr427Ala
ENST00000635477.1:c.383A>G
ENST00000635528.1:n.794A>G
NM_000277.1:c.1279A>G	NP_000268.1:p.Thr427Ala
XM_011538422.1:c.1222A>G	XP_011536724.1:p.Thr408Ala
NM_000277.2:c.1279A>G	NP_000268.1:p.Thr427Ala
NM_001354304.1:c.1279A>G	NP_001341233.1:p.Thr427Ala
NM_000277.3:c.1279A>G MANE Select	NP_000268.1:p.Thr427Ala
NM_001354304.2:c.1279A>G	NP_001341233.1:p.Thr427Ala