Canonical Allele Identifier: CA16041762

Gene: FAH

Linked Data

• ClinVar Variation Id: 371623
• ClinVar RCV Id: RCV000410008
• dbSNP Id: rs1057516631
• MyVariant Identifiers: chr15:g.80478549T>C (hg19) ; chr15:g.80186207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186207T>C , CM000677.2:g.80186207T>C	GRCh38
NC_000015.9:g.80478549T>C , CM000677.1:g.80478549T>C	GRCh37
NC_000015.8:g.78265604T>C	NCBI36
NG_012833.1:g.38209T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1347T>C
ENST00000561421.6:c.1258T>C MANE Select	ENSP00000453347.2:p.Ter420Arg
ENST00000646551.1:n.2872T>C
ENST00000261755.9:c.1258T>C	ENSP00000261755.5:p.Ter420Arg
ENST00000407106.5:c.1258T>C	ENSP00000385080.1:p.Ter420Arg
ENST00000539156.5:c.1048T>C	ENSP00000454271.1:p.Ter350Arg
ENST00000559217.1:n.475T>C
ENST00000561421.5:c.1258T>C	ENSP00000453347.1:p.Ter420Arg
NM_000137.2:c.1258T>C	NP_000128.1:p.Ter420Arg
XM_024449872.1:c.1258T>C	XP_024305640.1:p.Ter420Arg
NM_000137.4:c.1258T>C MANE Select	NP_000128.1:p.Ter420Arg
NM_001374377.1:c.1258T>C	NP_001361306.1:p.Ter420Arg
NM_001374380.1:c.1258T>C	NP_001361309.1:p.Ter420Arg