Canonical Allele Identifier: CA2629876379

Gene: FAH

Linked Data

• gnomAD v4: 15-80159887-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159887A>C , CM000677.2:g.80159887A>C	GRCh38
NC_000015.9:g.80452229A>C , CM000677.1:g.80452229A>C	GRCh37
NC_000015.8:g.78239284A>C	NCBI36
NG_012833.1:g.11889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.314+10A>C	ENSP00000507680.1:n.314+10A>C
ENST00000682012.1:n.389+10A>C
ENST00000683593.1:n.191+10A>C
ENST00000684363.1:c.314+10A>C	ENSP00000507314.1:n.314+10A>C
ENST00000684569.1:n.359+10A>C
ENST00000561421.6:c.314+10A>C MANE Select	ENSP00000453347.2:n.314+10A>C
ENST00000646551.1:n.1801+10A>C
ENST00000261755.9:c.314+10A>C	ENSP00000261755.5:n.314+10A>C
ENST00000407106.5:c.314+10A>C	ENSP00000385080.1:n.314+10A>C
ENST00000537726.5:n.396+10A>C
ENST00000539156.5:c.104+10A>C	ENSP00000454271.1:n.104+10A>C
ENST00000558022.5:c.314+10A>C	ENSP00000453152.1:n.314+10A>C
ENST00000558767.5:n.575+10A>C
ENST00000561369.1:n.394+10A>C
ENST00000561421.5:c.314+10A>C	ENSP00000453347.1:n.314+10A>C
NM_000137.2:c.314+10A>C	NP_000128.1:n.314+10A>C
XM_024449872.1:c.314+10A>C	XP_024305640.1:n.314+10A>C
NM_000137.4:c.314+10A>C MANE Select	NP_000128.1:n.314+10A>C
NM_001374377.1:c.314+10A>C	NP_001361306.1:n.314+10A>C
NM_001374380.1:c.314+10A>C	NP_001361309.1:n.314+10A>C