Canonical Allele Identifier: CA386492969

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234205G>C (hg19) ; chr12:g.102840427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840427G>C , CM000674.2:g.102840427G>C	GRCh38
NC_000012.11:g.103234205G>C , CM000674.1:g.103234205G>C	GRCh37
NC_000012.10:g.101758335G>C	NCBI36
NG_008690.1:g.82176C>G
NG_008690.2:g.122984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1288C>G MANE Select	ENSP00000448059.1:p.Leu430Val
ENST00000307000.7:c.1273C>G	ENSP00000303500.2:p.Leu425Val
ENST00000551114.2:n.950C>G
ENST00000553106.5:c.1288C>G	ENSP00000448059.1:p.Leu430Val
ENST00000635477.1:c.392C>G
ENST00000635528.1:n.803C>G
NM_000277.1:c.1288C>G	NP_000268.1:p.Leu430Val
XM_011538422.1:c.1231C>G	XP_011536724.1:p.Leu411Val
NM_000277.2:c.1288C>G	NP_000268.1:p.Leu430Val
NM_001354304.1:c.1288C>G	NP_001341233.1:p.Leu430Val
NM_000277.3:c.1288C>G MANE Select	NP_000268.1:p.Leu430Val
NM_001354304.2:c.1288C>G	NP_001341233.1:p.Leu430Val