Canonical Allele Identifier: CA7690979

Gene: FAH

Linked Data

• dbSNP Id: rs778283270
• ExAC: 15:80445471 A / T
• gnomAD v2: 15-80445471-A-T
• gnomAD v3: 15-80153129-A-T
• gnomAD v4: 15-80153129-A-T
• MyVariant Identifiers: chr15:g.80445471A>T (hg19) ; chr15:g.80153129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153129A>T , CM000677.2:g.80153129A>T	GRCh38
NC_000015.9:g.80445471A>T , CM000677.1:g.80445471A>T	GRCh37
NC_000015.8:g.78232526A>T	NCBI36
NG_012833.1:g.5131A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.75A>T	ENSP00000507680.1:p.Arg25Ser
ENST00000682012.1:n.150A>T
ENST00000684363.1:c.75A>T	ENSP00000507314.1:p.Arg25Ser
ENST00000684569.1:n.120A>T
ENST00000561421.6:c.75A>T MANE Select	ENSP00000453347.2:p.Arg25Ser
ENST00000261755.9:c.75A>T	ENSP00000261755.5:p.Arg25Ser
ENST00000407106.5:c.75A>T	ENSP00000385080.1:p.Arg25Ser
ENST00000537726.5:n.157A>T
ENST00000558022.5:c.75A>T	ENSP00000453152.1:p.Arg25Ser
ENST00000558767.5:n.336A>T
ENST00000561369.1:n.155A>T
ENST00000561421.5:c.75A>T	ENSP00000453347.1:p.Arg25Ser
NM_000137.2:c.75A>T	NP_000128.1:p.Arg25Ser
XM_024449872.1:c.75A>T	XP_024305640.1:p.Arg25Ser
NM_000137.4:c.75A>T MANE Select	NP_000128.1:p.Arg25Ser
NM_001374377.1:c.75A>T	NP_001361306.1:p.Arg25Ser
NM_001374380.1:c.75A>T	NP_001361309.1:p.Arg25Ser