Canonical Allele Identifier: CA2190317789

Gene: FAH

Linked Data

• dbSNP Id: rs1875220287

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80185906C>A , CM000677.2:g.80185906C>A	GRCh38
NC_000015.9:g.80478248C>A , CM000677.1:g.80478248C>A	GRCh37
NC_000015.8:g.78265303C>A	NCBI36
NG_012833.1:g.37908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-224C>A
ENST00000561421.6:c.1181-224C>A MANE Select	ENSP00000453347.2:n.1181-224C>A
ENST00000646551.1:n.2795-224C>A
ENST00000261755.9:c.1181-224C>A	ENSP00000261755.5:n.1181-224C>A
ENST00000407106.5:c.1181-224C>A	ENSP00000385080.1:n.1181-224C>A
ENST00000539156.5:c.971-224C>A	ENSP00000454271.1:n.971-224C>A
ENST00000559217.1:n.398-224C>A
ENST00000561421.5:c.1181-224C>A	ENSP00000453347.1:n.1181-224C>A
NM_000137.2:c.1181-224C>A	NP_000128.1:n.1181-224C>A
XM_024449872.1:c.1181-224C>A	XP_024305640.1:n.1181-224C>A
NM_000137.4:c.1181-224C>A MANE Select	NP_000128.1:n.1181-224C>A
NM_001374377.1:c.1181-224C>A	NP_001361306.1:n.1181-224C>A
NM_001374380.1:c.1181-224C>A	NP_001361309.1:n.1181-224C>A