Canonical Allele Identifier: CA393621538

Gene: FAH

Linked Data

• gnomAD v3: 15-80177543-G-A
• gnomAD v4: 15-80177543-G-A
• MyVariant Identifiers: chr15:g.80469885G>A (hg19) ; chr15:g.80177543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177543G>A , CM000677.2:g.80177543G>A	GRCh38
NC_000015.9:g.80469885G>A , CM000677.1:g.80469885G>A	GRCh37
NC_000015.8:g.78256940G>A	NCBI36
NG_012833.1:g.29545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1009G>A
ENST00000561421.6:c.920G>A MANE Select	ENSP00000453347.2:p.Gly307Glu
ENST00000646551.1:n.2534G>A
ENST00000261755.9:c.920G>A	ENSP00000261755.5:p.Gly307Glu
ENST00000407106.5:c.920G>A	ENSP00000385080.1:p.Gly307Glu
ENST00000539156.5:c.710G>A	ENSP00000454271.1:p.Gly237Glu
ENST00000559217.1:n.137G>A
ENST00000561353.2:c.18G>A
ENST00000561421.5:c.920G>A	ENSP00000453347.1:p.Gly307Glu
NM_000137.2:c.920G>A	NP_000128.1:p.Gly307Glu
XM_024449872.1:c.920G>A	XP_024305640.1:p.Gly307Glu
NM_000137.4:c.920G>A MANE Select	NP_000128.1:p.Gly307Glu
NM_001374377.1:c.920G>A	NP_001361306.1:p.Gly307Glu
NM_001374380.1:c.920G>A	NP_001361309.1:p.Gly307Glu