Canonical Allele Identifier: CA2804916197
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80179724_80179725insAC , CM000677.2:g.80179724_80179725insAC GRCh38
NC_000015.9:g.80472066_80472067insAC , CM000677.1:g.80472066_80472067insAC GRCh37
NC_000015.8:g.78259121_78259122insAC NCBI36
NG_012833.1:g.31726_31727insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1050-400_1050-399insAC
ENST00000561421.6:c.961-400_961-399insAC MANE Select ENSP00000453347.2:n.961-400_961-399insAC
ENST00000646551.1:n.2575-400_2575-399insAC
ENST00000261755.9:c.961-400_961-399insAC ENSP00000261755.5:n.961-400_961-399insAC
ENST00000407106.5:c.961-400_961-399insAC ENSP00000385080.1:n.961-400_961-399insAC
ENST00000539156.5:c.751-400_751-399insAC ENSP00000454271.1:n.751-400_751-399insAC
ENST00000559217.1:n.178-400_178-399insAC
ENST00000561353.2:c.59-400_59-399insAC
ENST00000561421.5:c.961-400_961-399insAC ENSP00000453347.1:n.961-400_961-399insAC
NM_000137.2:c.961-400_961-399insAC NP_000128.1:n.961-400_961-399insAC
XM_024449872.1:c.961-400_961-399insAC XP_024305640.1:n.961-400_961-399insAC
NM_000137.4:c.961-400_961-399insAC MANE Select NP_000128.1:n.961-400_961-399insAC
NM_001374377.1:c.961-400_961-399insAC NP_001361306.1:n.961-400_961-399insAC
NM_001374380.1:c.961-400_961-399insAC NP_001361309.1:n.961-400_961-399insAC