Canonical Allele Identifier: CA971901067

Gene: FAH

Linked Data

• dbSNP Id: rs1595893151
• gnomAD v3: 15-80168222-A-C
• gnomAD v4: 15-80168222-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168222A>C , CM000677.2:g.80168222A>C	GRCh38
NC_000015.9:g.80460564A>C , CM000677.1:g.80460564A>C	GRCh37
NC_000015.8:g.78247619A>C	NCBI36
NG_012833.1:g.20224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.701A>C
ENST00000684569.1:n.599-42A>C
ENST00000561421.6:c.554-42A>C MANE Select	ENSP00000453347.2:n.554-42A>C
ENST00000646551.1:n.2181-42A>C
ENST00000261755.9:c.554-42A>C	ENSP00000261755.5:n.554-42A>C
ENST00000407106.5:c.554-42A>C	ENSP00000385080.1:n.554-42A>C
ENST00000539156.5:c.344-42A>C	ENSP00000454271.1:n.344-42A>C
ENST00000558514.1:n.100-42A>C
ENST00000558627.1:n.482-42A>C
ENST00000561421.5:c.554-42A>C	ENSP00000453347.1:n.554-42A>C
NM_000137.2:c.554-42A>C	NP_000128.1:n.554-42A>C
XM_024449872.1:c.554-42A>C	XP_024305640.1:n.554-42A>C
NM_000137.4:c.554-42A>C MANE Select	NP_000128.1:n.554-42A>C
NM_001374377.1:c.554-42A>C	NP_001361306.1:n.554-42A>C
NM_001374380.1:c.554-42A>C	NP_001361309.1:n.554-42A>C