Canonical Allele Identifier: CA386295808

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246710A>G (hg19) ; chr12:g.102852932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852932A>G , CM000674.2:g.102852932A>G	GRCh38
NC_000012.11:g.103246710A>G , CM000674.1:g.103246710A>G	GRCh37
NC_000012.10:g.101770840A>G	NCBI36
NG_008690.1:g.69671T>C
NG_008690.2:g.110479T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.725T>C MANE Select	ENSP00000448059.1:p.Leu242Pro
ENST00000307000.7:c.710T>C	ENSP00000303500.2:p.Leu237Pro
ENST00000549247.6:n.484T>C
ENST00000553106.5:c.725T>C	ENSP00000448059.1:p.Leu242Pro
NM_000277.1:c.725T>C	NP_000268.1:p.Leu242Pro
XM_011538422.1:c.725T>C	XP_011536724.1:p.Leu242Pro
NM_000277.2:c.725T>C	NP_000268.1:p.Leu242Pro
NM_001354304.1:c.725T>C	NP_001341233.1:p.Leu242Pro
NM_000277.3:c.725T>C MANE Select	NP_000268.1:p.Leu242Pro
NM_001354304.2:c.725T>C	NP_001341233.1:p.Leu242Pro