Canonical Allele Identifier: CA393619761

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460394G>C (hg19) ; chr15:g.80168052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168052G>C , CM000677.2:g.80168052G>C	GRCh38
NC_000015.9:g.80460394G>C , CM000677.1:g.80460394G>C	GRCh37
NC_000015.8:g.78247449G>C	NCBI36
NG_012833.1:g.20054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531G>C
ENST00000684569.1:n.501G>C
ENST00000561421.6:c.456G>C MANE Select	ENSP00000453347.2:p.Trp152Cys
ENST00000646551.1:n.2083G>C
ENST00000261755.9:c.456G>C	ENSP00000261755.5:p.Trp152Cys
ENST00000407106.5:c.456G>C	ENSP00000385080.1:p.Trp152Cys
ENST00000539156.5:c.246G>C	ENSP00000454271.1:p.Trp82Cys
ENST00000558022.5:c.456G>C	ENSP00000453152.1:p.Trp152Cys
ENST00000558514.1:n.2G>C
ENST00000558627.1:n.384G>C
ENST00000561421.5:c.456G>C	ENSP00000453347.1:p.Trp152Cys
NM_000137.2:c.456G>C	NP_000128.1:p.Trp152Cys
XM_024449872.1:c.456G>C	XP_024305640.1:p.Trp152Cys
NM_000137.4:c.456G>C MANE Select	NP_000128.1:p.Trp152Cys
NM_001374377.1:c.456G>C	NP_001361306.1:p.Trp152Cys
NM_001374380.1:c.456G>C	NP_001361309.1:p.Trp152Cys