Canonical Allele Identifier: CA393620022

Gene: FAH

Linked Data

• gnomAD v4: 15-80168287-T-C
• MyVariant Identifiers: chr15:g.80460629T>C (hg19) ; chr15:g.80168287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168287T>C , CM000677.2:g.80168287T>C	GRCh38
NC_000015.9:g.80460629T>C , CM000677.1:g.80460629T>C	GRCh37
NC_000015.8:g.78247684T>C	NCBI36
NG_012833.1:g.20289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.766T>C
ENST00000684569.1:n.622T>C
ENST00000561421.6:c.577T>C MANE Select	ENSP00000453347.2:p.Cys193Arg
ENST00000646551.1:n.2204T>C
ENST00000261755.9:c.577T>C	ENSP00000261755.5:p.Cys193Arg
ENST00000407106.5:c.577T>C	ENSP00000385080.1:p.Cys193Arg
ENST00000539156.5:c.367T>C	ENSP00000454271.1:p.Cys123Arg
ENST00000558514.1:n.123T>C
ENST00000558627.1:n.505T>C
ENST00000561421.5:c.577T>C	ENSP00000453347.1:p.Cys193Arg
NM_000137.2:c.577T>C	NP_000128.1:p.Cys193Arg
XM_024449872.1:c.577T>C	XP_024305640.1:p.Cys193Arg
NM_000137.4:c.577T>C MANE Select	NP_000128.1:p.Cys193Arg
NM_001374377.1:c.577T>C	NP_001361306.1:p.Cys193Arg
NM_001374380.1:c.577T>C	NP_001361309.1:p.Cys193Arg