Canonical Allele Identifier: CA481331552

Gene: PAH

Linked Data

• ClinVar Variation Id: 2793757
• ClinVar RCV Id: RCV003598373
• dbSNP Id: rs1592953055
• MyVariant Identifiers: chr12:g.103246693G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852915G>A , CM000674.2:g.102852915G>A	GRCh38
NC_000012.11:g.103246693G>A , CM000674.1:g.103246693G>A	GRCh37
NC_000012.10:g.101770823G>A	NCBI36
NG_008690.1:g.69688C>T
NG_008690.2:g.110496C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.742C>T MANE Select	ENSP00000448059.1:p.Leu248=
ENST00000307000.7:c.727C>T	ENSP00000303500.2:p.Leu243=
ENST00000549247.6:n.501C>T
ENST00000553106.5:c.742C>T	ENSP00000448059.1:p.Leu248=
NM_000277.1:c.742C>T	NP_000268.1:p.Leu248=
XM_011538422.1:c.742C>T	XP_011536724.1:p.Leu248=
NM_000277.2:c.742C>T	NP_000268.1:p.Leu248=
NM_001354304.1:c.742C>T	NP_001341233.1:p.Leu248=
NM_000277.3:c.742C>T MANE Select	NP_000268.1:p.Leu248=
NM_001354304.2:c.742C>T	NP_001341233.1:p.Leu248=