Canonical Allele Identifier: CA2629878159

Gene: FAH

Linked Data

• gnomAD v4: 15-80162192-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162192T>G , CM000677.2:g.80162192T>G	GRCh38
NC_000015.9:g.80454534T>G , CM000677.1:g.80454534T>G	GRCh37
NC_000015.8:g.78241589T>G	NCBI36
NG_012833.1:g.14194T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.365-54T>G	ENSP00000507680.1:n.365-54T>G
ENST00000682012.1:n.440-54T>G
ENST00000683593.1:n.1974T>G
ENST00000684363.1:c.365-200T>G	ENSP00000507314.1:n.365-200T>G
ENST00000684569.1:n.410-54T>G
ENST00000561421.6:c.365-54T>G MANE Select	ENSP00000453347.2:n.365-54T>G
ENST00000646551.1:n.1852-54T>G
ENST00000261755.9:c.365-54T>G	ENSP00000261755.5:n.365-54T>G
ENST00000407106.5:c.365-54T>G	ENSP00000385080.1:n.365-54T>G
ENST00000537726.5:n.511-54T>G
ENST00000539156.5:c.155-54T>G	ENSP00000454271.1:n.155-54T>G
ENST00000558022.5:c.365-54T>G	ENSP00000453152.1:n.365-54T>G
ENST00000558627.1:n.293-54T>G
ENST00000558767.5:n.626-54T>G
ENST00000561369.1:n.509-54T>G
ENST00000561421.5:c.365-54T>G	ENSP00000453347.1:n.365-54T>G
NM_000137.2:c.365-54T>G	NP_000128.1:n.365-54T>G
XM_024449872.1:c.365-54T>G	XP_024305640.1:n.365-54T>G
NM_000137.4:c.365-54T>G MANE Select	NP_000128.1:n.365-54T>G
NM_001374377.1:c.365-54T>G	NP_001361306.1:n.365-54T>G
NM_001374380.1:c.365-54T>G	NP_001361309.1:n.365-54T>G