Canonical Allele Identifier: CA114867
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1234
dbSNP Id: rs121908284
gnomAD v2: 8-43048967-T-A
gnomAD v3: 8-43193824-T-A
gnomAD v4: 8-43193824-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43193824T>A , CM000670.2:g.43193824T>A GRCh38
NC_000008.10:g.43048967T>A , CM000670.1:g.43048967T>A GRCh37
NC_000008.9:g.43168124T>A NCBI36
NG_009552.1:g.58376T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1445T>A MANE Select ENSP00000368965.4:p.Met482Lys
ENST00000379644.8:c.1445T>A ENSP00000368965.4:p.Met482Lys
ENST00000520678.1:n.378T>A
ENST00000521576.1:c.596T>A ENSP00000429029.1:p.Met199Lys
ENST00000524016.5:c.549T>A
NM_152419.2:c.1445T>A NP_689632.2:p.Met482Lys
XM_005273409.1:c.1445T>A XP_005273466.1:p.Met482Lys
XM_005273410.1:c.1445T>A XP_005273467.1:p.Met482Lys
XM_005273411.1:c.1253T>A XP_005273468.1:p.Met418Lys
XM_005273412.2:c.1445T>A XP_005273469.1:p.Met482Lys
NM_001363227.1:c.1445T>A NP_001350156.1:p.Met482Lys
NM_001363228.1:c.1253T>A NP_001350157.1:p.Met418Lys
NM_001363229.1:c.581T>A NP_001350158.1:p.Met194Lys
XM_005273412.4:c.1445T>A XP_005273469.1:p.Met482Lys
NM_152419.3:c.1445T>A MANE Select NP_689632.2:p.Met482Lys
NM_001363227.2:c.1445T>A NP_001350156.1:p.Met482Lys
NM_001363228.2:c.1253T>A NP_001350157.1:p.Met418Lys
NM_001363229.2:c.581T>A NP_001350158.1:p.Met194Lys