Canonical Allele Identifier: CA2190327793

Gene: FAH

Linked Data

• dbSNP Id: rs2041063769
• gnomAD v4: 15-80152979-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152979T>C , CM000677.2:g.80152979T>C	GRCh38
NC_000015.9:g.80445321T>C , CM000677.1:g.80445321T>C	GRCh37
NC_000015.8:g.78232376T>C	NCBI36
NG_012833.1:g.4981T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.-76T>C	ENSP00000507680.1:n.-76T>C
ENST00000261755.9:c.-29-47T>C	ENSP00000261755.5:n.-29-47T>C
ENST00000407106.5:c.-29-47T>C	ENSP00000385080.1:n.-29-47T>C
ENST00000537726.5:n.54-47T>C
ENST00000558022.5:c.-29-47T>C	ENSP00000453152.1:n.-29-47T>C
ENST00000558767.5:n.186T>C
ENST00000561369.1:n.52-47T>C
ENST00000561421.5:c.-76T>C	ENSP00000453347.1:n.-76T>C
NM_000137.2:c.-76T>C	NP_000128.1:n.-76T>C
XM_024449872.1:c.-29-47T>C	XP_024305640.1:n.-29-47T>C
NM_001374377.1:c.-29-47T>C	NP_001361306.1:n.-29-47T>C
NM_001374380.1:c.-29-47T>C	NP_001361309.1:n.-29-47T>C