Canonical Allele Identifier: CA393615425

Gene: FAH

Linked Data

• gnomAD v4: 15-80153076-G-C
• MyVariant Identifiers: chr15:g.80445418G>C (hg19) ; chr15:g.80153076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153076G>C , CM000677.2:g.80153076G>C	GRCh38
NC_000015.9:g.80445418G>C , CM000677.1:g.80445418G>C	GRCh37
NC_000015.8:g.78232473G>C	NCBI36
NG_012833.1:g.5078G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.22G>C	ENSP00000507680.1:p.Glu8Gln
ENST00000682012.1:n.97G>C
ENST00000684363.1:c.22G>C	ENSP00000507314.1:p.Glu8Gln
ENST00000684569.1:n.67G>C
ENST00000561421.6:c.22G>C MANE Select	ENSP00000453347.2:p.Glu8Gln
ENST00000261755.9:c.22G>C	ENSP00000261755.5:p.Glu8Gln
ENST00000407106.5:c.22G>C	ENSP00000385080.1:p.Glu8Gln
ENST00000537726.5:n.104G>C
ENST00000558022.5:c.22G>C	ENSP00000453152.1:p.Glu8Gln
ENST00000558767.5:n.283G>C
ENST00000561369.1:n.102G>C
ENST00000561421.5:c.22G>C	ENSP00000453347.1:p.Glu8Gln
NM_000137.2:c.22G>C	NP_000128.1:p.Glu8Gln
XM_024449872.1:c.22G>C	XP_024305640.1:p.Glu8Gln
NM_000137.4:c.22G>C MANE Select	NP_000128.1:p.Glu8Gln
NM_001374377.1:c.22G>C	NP_001361306.1:p.Glu8Gln
NM_001374380.1:c.22G>C	NP_001361309.1:p.Glu8Gln