Canonical Allele Identifier: CA393615431

Gene: FAH

Linked Data

• ClinVar Variation Id: 1005722
• ClinVar RCV Id: RCV001302649
• dbSNP Id: rs2041065243
• MyVariant Identifiers: chr15:g.80445419A>C (hg19) ; chr15:g.80153077A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153077A>C , CM000677.2:g.80153077A>C	GRCh38
NC_000015.9:g.80445419A>C , CM000677.1:g.80445419A>C	GRCh37
NC_000015.8:g.78232474A>C	NCBI36
NG_012833.1:g.5079A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.23A>C	ENSP00000507680.1:p.Glu8Ala
ENST00000682012.1:n.98A>C
ENST00000684363.1:c.23A>C	ENSP00000507314.1:p.Glu8Ala
ENST00000684569.1:n.68A>C
ENST00000561421.6:c.23A>C MANE Select	ENSP00000453347.2:p.Glu8Ala
ENST00000261755.9:c.23A>C	ENSP00000261755.5:p.Glu8Ala
ENST00000407106.5:c.23A>C	ENSP00000385080.1:p.Glu8Ala
ENST00000537726.5:n.105A>C
ENST00000558022.5:c.23A>C	ENSP00000453152.1:p.Glu8Ala
ENST00000558767.5:n.284A>C
ENST00000561369.1:n.103A>C
ENST00000561421.5:c.23A>C	ENSP00000453347.1:p.Glu8Ala
NM_000137.2:c.23A>C	NP_000128.1:p.Glu8Ala
XM_024449872.1:c.23A>C	XP_024305640.1:p.Glu8Ala
NM_000137.4:c.23A>C MANE Select	NP_000128.1:p.Glu8Ala
NM_001374377.1:c.23A>C	NP_001361306.1:p.Glu8Ala
NM_001374380.1:c.23A>C	NP_001361309.1:p.Glu8Ala