Canonical Allele Identifier: CA2190338372

Gene: FAH

Linked Data

• dbSNP Id: rs2041245594
• gnomAD v4: 15-80172095-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172095G>C , CM000677.2:g.80172095G>C	GRCh38
NC_000015.9:g.80464437G>C , CM000677.1:g.80464437G>C	GRCh37
NC_000015.8:g.78251492G>C	NCBI36
NG_012833.1:g.24097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.796-919G>C
ENST00000561421.6:c.607-54G>C MANE Select	ENSP00000453347.2:n.607-54G>C
ENST00000646551.1:n.2234-67G>C
ENST00000261755.9:c.607-54G>C	ENSP00000261755.5:n.607-54G>C
ENST00000407106.5:c.607-54G>C	ENSP00000385080.1:n.607-54G>C
ENST00000539156.5:c.397-54G>C	ENSP00000454271.1:n.397-54G>C
ENST00000558627.1:n.535-54G>C
ENST00000561421.5:c.607-54G>C	ENSP00000453347.1:n.607-54G>C
NM_000137.2:c.607-54G>C	NP_000128.1:n.607-54G>C
XM_024449872.1:c.607-54G>C	XP_024305640.1:n.607-54G>C
NM_000137.4:c.607-54G>C MANE Select	NP_000128.1:n.607-54G>C
NM_001374377.1:c.607-54G>C	NP_001361306.1:n.607-54G>C
NM_001374380.1:c.607-54G>C	NP_001361309.1:n.607-54G>C