Canonical Allele Identifier: CA386493321

Gene: PAH

Linked Data

• dbSNP Id: rs1221432852
• gnomAD v3: 12-102843755-G-A
• gnomAD v4: 12-102843755-G-A
• MyVariant Identifiers: chr12:g.103237533G>A (hg19) ; chr12:g.102843755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843755G>A , CM000674.2:g.102843755G>A	GRCh38
NC_000012.11:g.103237533G>A , CM000674.1:g.103237533G>A	GRCh37
NC_000012.10:g.101761663G>A	NCBI36
NG_008690.1:g.78848C>T
NG_008690.2:g.119656C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1090C>T MANE Select	ENSP00000448059.1:p.Leu364Phe
ENST00000307000.7:c.1075C>T	ENSP00000303500.2:p.Leu359Phe
ENST00000549247.6:n.849C>T
ENST00000551114.2:n.752C>T
ENST00000553106.5:c.1090C>T	ENSP00000448059.1:p.Leu364Phe
ENST00000635477.1:c.194C>T
ENST00000635528.1:n.605C>T
NM_000277.1:c.1090C>T	NP_000268.1:p.Leu364Phe
XM_011538422.1:c.1033C>T	XP_011536724.1:p.Leu345Phe
NM_000277.2:c.1090C>T	NP_000268.1:p.Leu364Phe
NM_001354304.1:c.1090C>T	NP_001341233.1:p.Leu364Phe
NM_000277.3:c.1090C>T MANE Select	NP_000268.1:p.Leu364Phe
NM_001354304.2:c.1090C>T	NP_001341233.1:p.Leu364Phe