Canonical Allele Identifier: CA274011037

Gene: FAH

Linked Data

• dbSNP Id: rs910647551
• gnomAD v2: 15-80445364-T-C
• gnomAD v3: 15-80153022-T-C
• gnomAD v4: 15-80153022-T-C
• MyVariant Identifiers: chr15:g.80445364T>C (hg19) ; chr15:g.80153022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153022T>C , CM000677.2:g.80153022T>C	GRCh38
NC_000015.9:g.80445364T>C , CM000677.1:g.80445364T>C	GRCh37
NC_000015.8:g.78232419T>C	NCBI36
NG_012833.1:g.5024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-33T>C	ENSP00000507680.1:n.-33T>C
ENST00000682012.1:n.43T>C
ENST00000684569.1:n.13T>C
ENST00000561421.6:c.-33T>C MANE Select	ENSP00000453347.2:n.-33T>C
ENST00000261755.9:c.-29-4T>C	ENSP00000261755.5:n.-29-4T>C
ENST00000407106.5:c.-29-4T>C	ENSP00000385080.1:n.-29-4T>C
ENST00000537726.5:n.54-4T>C
ENST00000558022.5:c.-29-4T>C	ENSP00000453152.1:n.-29-4T>C
ENST00000558767.5:n.229T>C
ENST00000561369.1:n.52-4T>C
ENST00000561421.5:c.-33T>C	ENSP00000453347.1:n.-33T>C
NM_000137.2:c.-33T>C	NP_000128.1:n.-33T>C
XM_024449872.1:c.-29-4T>C	XP_024305640.1:n.-29-4T>C
NM_000137.4:c.-33T>C MANE Select	NP_000128.1:n.-33T>C
NM_001374377.1:c.-29-4T>C	NP_001361306.1:n.-29-4T>C
NM_001374380.1:c.-29-4T>C	NP_001361309.1:n.-29-4T>C