Canonical Allele Identifier: CA7691138
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs758141842

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80162230G>T , CM000677.2:g.80162230G>T GRCh38
NC_000015.9:g.80454572G>T , CM000677.1:g.80454572G>T GRCh37
NC_000015.8:g.78241627G>T NCBI36
NG_012833.1:g.14232G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.365-16G>T ENSP00000507680.1:n.365-16G>T
ENST00000682012.1:n.440-16G>T
ENST00000683593.1:n.2012G>T
ENST00000684363.1:c.365-162G>T ENSP00000507314.1:n.365-162G>T
ENST00000684569.1:n.410-16G>T
ENST00000561421.6:c.365-16G>T MANE Select ENSP00000453347.2:n.365-16G>T
ENST00000646551.1:n.1852-16G>T
ENST00000261755.9:c.365-16G>T ENSP00000261755.5:n.365-16G>T
ENST00000407106.5:c.365-16G>T ENSP00000385080.1:n.365-16G>T
ENST00000537726.5:n.511-16G>T
ENST00000539156.5:c.155-16G>T ENSP00000454271.1:n.155-16G>T
ENST00000558022.5:c.365-16G>T ENSP00000453152.1:n.365-16G>T
ENST00000558627.1:n.293-16G>T
ENST00000558767.5:n.626-16G>T
ENST00000561369.1:n.509-16G>T
ENST00000561421.5:c.365-16G>T ENSP00000453347.1:n.365-16G>T
NM_000137.2:c.365-16G>T NP_000128.1:n.365-16G>T
XM_024449872.1:c.365-16G>T XP_024305640.1:n.365-16G>T
NM_000137.4:c.365-16G>T MANE Select NP_000128.1:n.365-16G>T
NM_001374377.1:c.365-16G>T NP_001361306.1:n.365-16G>T
NM_001374380.1:c.365-16G>T NP_001361309.1:n.365-16G>T