Canonical Allele Identifier: CA2190333960

Gene: FAH

Linked Data

• dbSNP Id: rs2041157288
• gnomAD v3: 15-80162412-C-G
• gnomAD v4: 15-80162412-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162412C>G , CM000677.2:g.80162412C>G	GRCh38
NC_000015.9:g.80454754C>G , CM000677.1:g.80454754C>G	GRCh37
NC_000015.8:g.78241809C>G	NCBI36
NG_012833.1:g.14414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*48C>G	ENSP00000507680.1:n.*48C>G
ENST00000682012.1:n.530+76C>G
ENST00000683593.1:n.2194C>G
ENST00000684363.1:c.385C>G	ENSP00000507314.1:p.Leu129Val
ENST00000684569.1:n.500+76C>G
ENST00000561421.6:c.455+76C>G MANE Select	ENSP00000453347.2:n.455+76C>G
ENST00000646551.1:n.1942+76C>G
ENST00000261755.9:c.455+76C>G	ENSP00000261755.5:n.455+76C>G
ENST00000407106.5:c.455+76C>G	ENSP00000385080.1:n.455+76C>G
ENST00000537726.5:n.677C>G
ENST00000539156.5:c.245+76C>G	ENSP00000454271.1:n.245+76C>G
ENST00000558022.5:c.455+76C>G	ENSP00000453152.1:n.455+76C>G
ENST00000558627.1:n.383+76C>G
ENST00000558767.5:n.792C>G
ENST00000561369.1:n.675C>G
ENST00000561421.5:c.455+76C>G	ENSP00000453347.1:n.455+76C>G
NM_000137.2:c.455+76C>G	NP_000128.1:n.455+76C>G
XM_024449872.1:c.455+76C>G	XP_024305640.1:n.455+76C>G
NM_000137.4:c.455+76C>G MANE Select	NP_000128.1:n.455+76C>G
NM_001374377.1:c.455+76C>G	NP_001361306.1:n.455+76C>G
NM_001374380.1:c.455+76C>G	NP_001361309.1:n.455+76C>G