Canonical Allele Identifier: CA2629872987

Gene: FAH

Linked Data

• gnomAD v4: 15-80152907-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152907T>G , CM000677.2:g.80152907T>G	GRCh38
NC_000015.9:g.80445249T>G , CM000677.1:g.80445249T>G	GRCh37
NC_000015.8:g.78232304T>G	NCBI36
NG_012833.1:g.4909T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-148T>G	ENSP00000507680.1:n.-148T>G
ENST00000261755.9:c.-30+66T>G	ENSP00000261755.5:n.-30+66T>G
ENST00000407106.5:c.-30+2T>G	ENSP00000385080.1:n.-30+2T>G
ENST00000537726.5:n.53+66T>G
ENST00000558022.5:c.-29-119T>G	ENSP00000453152.1:n.-29-119T>G
ENST00000558767.5:n.114T>G
ENST00000561369.1:n.51+2T>G
ENST00000561421.5:c.-148T>G	ENSP00000453347.1:n.-148T>G
NM_000137.2:c.-148T>G	NP_000128.1:n.-148T>G
XM_024449872.1:c.-30+2T>G	XP_024305640.1:n.-30+2T>G
NM_001374377.1:c.-30+2T>G	NP_001361306.1:n.-30+2T>G
NM_001374380.1:c.-30+66T>G	NP_001361309.1:n.-30+66T>G