Canonical Allele Identifier: CA491671744

Gene: FAH

Linked Data

• dbSNP Id: rs2142086749
• gnomAD v4: 15-80153008-C-T
• MyVariant Identifiers: chr15:g.80445350C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153008C>T , CM000677.2:g.80153008C>T	GRCh38
NC_000015.9:g.80445350C>T , CM000677.1:g.80445350C>T	GRCh37
NC_000015.8:g.78232405C>T	NCBI36
NG_012833.1:g.5010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-47C>T	ENSP00000507680.1:n.-47C>T
ENST00000682012.1:n.29C>T
ENST00000561421.6:c.-47C>T MANE Select	ENSP00000453347.2:n.-47C>T
ENST00000261755.9:c.-29-18C>T	ENSP00000261755.5:n.-29-18C>T
ENST00000407106.5:c.-29-18C>T	ENSP00000385080.1:n.-29-18C>T
ENST00000537726.5:n.54-18C>T
ENST00000558022.5:c.-29-18C>T	ENSP00000453152.1:n.-29-18C>T
ENST00000558767.5:n.215C>T
ENST00000561369.1:n.52-18C>T
ENST00000561421.5:c.-47C>T	ENSP00000453347.1:n.-47C>T
NM_000137.2:c.-47C>T	NP_000128.1:n.-47C>T
XM_024449872.1:c.-29-18C>T	XP_024305640.1:n.-29-18C>T
NM_000137.4:c.-47C>T MANE Select	NP_000128.1:n.-47C>T
NM_001374377.1:c.-29-18C>T	NP_001361306.1:n.-29-18C>T
NM_001374380.1:c.-29-18C>T	NP_001361309.1:n.-29-18C>T