Canonical Allele Identifier: CA491682309

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80460409G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168067G>C , CM000677.2:g.80168067G>C	GRCh38
NC_000015.9:g.80460409G>C , CM000677.1:g.80460409G>C	GRCh37
NC_000015.8:g.78247464G>C	NCBI36
NG_012833.1:g.20069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.546G>C
ENST00000684569.1:n.516G>C
ENST00000561421.6:c.471G>C MANE Select	ENSP00000453347.2:p.Val157=
ENST00000646551.1:n.2098G>C
ENST00000261755.9:c.471G>C	ENSP00000261755.5:p.Val157=
ENST00000407106.5:c.471G>C	ENSP00000385080.1:p.Val157=
ENST00000539156.5:c.261G>C	ENSP00000454271.1:p.Val87=
ENST00000558022.5:c.471G>C	ENSP00000453152.1:p.Val157=
ENST00000558514.1:n.17G>C
ENST00000558627.1:n.399G>C
ENST00000561421.5:c.471G>C	ENSP00000453347.1:p.Val157=
NM_000137.2:c.471G>C	NP_000128.1:p.Val157=
XM_024449872.1:c.471G>C	XP_024305640.1:p.Val157=
NM_000137.4:c.471G>C MANE Select	NP_000128.1:p.Val157=
NM_001374377.1:c.471G>C	NP_001361306.1:p.Val157=
NM_001374380.1:c.471G>C	NP_001361309.1:p.Val157=