Canonical Allele Identifier: CA114871
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1237
dbSNP Id: rs121908285
gnomAD v2: 8-43037305-C-T
gnomAD v3: 8-43182162-C-T
gnomAD v4: 8-43182162-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43182162C>T , CM000670.2:g.43182162C>T GRCh38
NC_000008.10:g.43037305C>T , CM000670.1:g.43037305C>T GRCh37
NC_000008.9:g.43156462C>T NCBI36
NG_009552.1:g.46714C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1030C>T MANE Select ENSP00000368965.4:p.Arg344Cys
ENST00000379644.8:c.1030C>T ENSP00000368965.4:p.Arg344Cys
ENST00000519000.1:n.516C>T
ENST00000521576.1:c.181C>T ENSP00000429029.1:p.Arg61Cys
ENST00000522082.5:c.271C>T ENSP00000430151.1:p.Arg91Cys
ENST00000524016.5:c.134C>T
NM_152419.2:c.1030C>T NP_689632.2:p.Arg344Cys
XM_005273409.1:c.1030C>T XP_005273466.1:p.Arg344Cys
XM_005273410.1:c.1030C>T XP_005273467.1:p.Arg344Cys
XM_005273411.1:c.838C>T XP_005273468.1:p.Arg280Cys
XM_005273412.2:c.1030C>T XP_005273469.1:p.Arg344Cys
NM_001363227.1:c.1030C>T NP_001350156.1:p.Arg344Cys
NM_001363228.1:c.838C>T NP_001350157.1:p.Arg280Cys
NM_001363229.1:c.166C>T NP_001350158.1:p.Arg56Cys
XM_005273412.4:c.1030C>T XP_005273469.1:p.Arg344Cys
NM_152419.3:c.1030C>T MANE Select NP_689632.2:p.Arg344Cys
NM_001363227.2:c.1030C>T NP_001350156.1:p.Arg344Cys
NM_001363228.2:c.838C>T NP_001350157.1:p.Arg280Cys
NM_001363229.2:c.166C>T NP_001350158.1:p.Arg56Cys