Canonical Allele Identifier: CA491682608

Gene: FAH

Linked Data

• ClinVar Variation Id: 2798231
• ClinVar RCV Id: RCV003634465
• dbSNP Id: rs1448266336
• gnomAD v2: 15-80460487-T-C
• gnomAD v4: 15-80168145-T-C
• MyVariant Identifiers: chr15:g.80460487T>C (hg19) ; chr15:g.80168145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168145T>C , CM000677.2:g.80168145T>C	GRCh38
NC_000015.9:g.80460487T>C , CM000677.1:g.80460487T>C	GRCh37
NC_000015.8:g.78247542T>C	NCBI36
NG_012833.1:g.20147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.624T>C
ENST00000684569.1:n.594T>C
ENST00000561421.6:c.549T>C MANE Select	ENSP00000453347.2:p.Asp183=
ENST00000646551.1:n.2176T>C
ENST00000261755.9:c.549T>C	ENSP00000261755.5:p.Asp183=
ENST00000407106.5:c.549T>C	ENSP00000385080.1:p.Asp183=
ENST00000539156.5:c.339T>C	ENSP00000454271.1:p.Asp113=
ENST00000558514.1:n.95T>C
ENST00000558627.1:n.477T>C
ENST00000561421.5:c.549T>C	ENSP00000453347.1:p.Asp183=
NM_000137.2:c.549T>C	NP_000128.1:p.Asp183=
XM_024449872.1:c.549T>C	XP_024305640.1:p.Asp183=
NM_000137.4:c.549T>C MANE Select	NP_000128.1:p.Asp183=
NM_001374377.1:c.549T>C	NP_001361306.1:p.Asp183=
NM_001374380.1:c.549T>C	NP_001361309.1:p.Asp183=