Canonical Allele Identifier: CA274026327

Gene: FAH

Linked Data

• dbSNP Id: rs1028226070
• gnomAD v4: 15-80168310-G-A
• MyVariant Identifiers: chr15:g.80460652G>A (hg19) ; chr15:g.80168310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168310G>A , CM000677.2:g.80168310G>A	GRCh38
NC_000015.9:g.80460652G>A , CM000677.1:g.80460652G>A	GRCh37
NC_000015.8:g.78247707G>A	NCBI36
NG_012833.1:g.20312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.789G>A
ENST00000684569.1:n.645G>A
ENST00000561421.6:c.600G>A MANE Select	ENSP00000453347.2:p.Leu200=
ENST00000646551.1:n.2227G>A
ENST00000261755.9:c.600G>A	ENSP00000261755.5:p.Leu200=
ENST00000407106.5:c.600G>A	ENSP00000385080.1:p.Leu200=
ENST00000539156.5:c.390G>A	ENSP00000454271.1:p.Leu130=
ENST00000558514.1:n.146G>A
ENST00000558627.1:n.528G>A
ENST00000561421.5:c.600G>A	ENSP00000453347.1:p.Leu200=
NM_000137.2:c.600G>A	NP_000128.1:p.Leu200=
XM_024449872.1:c.600G>A	XP_024305640.1:p.Leu200=
NM_000137.4:c.600G>A MANE Select	NP_000128.1:p.Leu200=
NM_001374377.1:c.600G>A	NP_001361306.1:p.Leu200=
NM_001374380.1:c.600G>A	NP_001361309.1:p.Leu200=