Canonical Allele Identifier: CA386296562

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103248929A>C (hg19) ; chr12:g.102855151A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855151A>C , CM000674.2:g.102855151A>C	GRCh38
NC_000012.11:g.103248929A>C , CM000674.1:g.103248929A>C	GRCh37
NC_000012.10:g.101773059A>C	NCBI36
NG_008690.1:g.67452T>G
NG_008690.2:g.108260T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.691T>G MANE Select	ENSP00000448059.1:p.Ser231Ala
ENST00000307000.7:c.676T>G	ENSP00000303500.2:p.Ser226Ala
ENST00000549111.5:n.787T>G
ENST00000553106.5:c.691T>G	ENSP00000448059.1:p.Ser231Ala
NM_000277.1:c.691T>G	NP_000268.1:p.Ser231Ala
XM_011538422.1:c.691T>G	XP_011536724.1:p.Ser231Ala
NM_000277.2:c.691T>G	NP_000268.1:p.Ser231Ala
NM_001354304.1:c.691T>G	NP_001341233.1:p.Ser231Ala
XM_017019370.2:c.691T>G	XP_016874859.1:p.Ser231Ala
NM_000277.3:c.691T>G MANE Select	NP_000268.1:p.Ser231Ala
NM_001354304.2:c.691T>G	NP_001341233.1:p.Ser231Ala