Canonical Allele Identifier: CA7690957
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 317199
dbSNP Id: rs200704926

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80153012G>T , CM000677.2:g.80153012G>T GRCh38
NC_000015.9:g.80445354G>T , CM000677.1:g.80445354G>T GRCh37
NC_000015.8:g.78232409G>T NCBI36
NG_012833.1:g.5014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-43G>T ENSP00000507680.1:n.-43G>T
ENST00000682012.1:n.33G>T
ENST00000684569.1:n.3G>T
ENST00000561421.6:c.-43G>T MANE Select ENSP00000453347.2:n.-43G>T
ENST00000261755.9:c.-29-14G>T ENSP00000261755.5:n.-29-14G>T
ENST00000407106.5:c.-29-14G>T ENSP00000385080.1:n.-29-14G>T
ENST00000537726.5:n.54-14G>T
ENST00000558022.5:c.-29-14G>T ENSP00000453152.1:n.-29-14G>T
ENST00000558767.5:n.219G>T
ENST00000561369.1:n.52-14G>T
ENST00000561421.5:c.-43G>T ENSP00000453347.1:n.-43G>T
NM_000137.2:c.-43G>T NP_000128.1:n.-43G>T
XM_024449872.1:c.-29-14G>T XP_024305640.1:n.-29-14G>T
NM_000137.4:c.-43G>T MANE Select NP_000128.1:n.-43G>T
NM_001374377.1:c.-29-14G>T NP_001361306.1:n.-29-14G>T
NM_001374380.1:c.-29-14G>T NP_001361309.1:n.-29-14G>T