Canonical Allele Identifier: CA4736834
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 363149
dbSNP Id: rs147251143

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43192325C>T , CM000670.2:g.43192325C>T GRCh38
NC_000008.10:g.43047468C>T , CM000670.1:g.43047468C>T GRCh37
NC_000008.9:g.43166625C>T NCBI36
NG_009552.1:g.56877C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1272C>T MANE Select ENSP00000368965.4:p.Gly424=
ENST00000379644.8:c.1272C>T ENSP00000368965.4:p.Gly424=
ENST00000520678.1:n.205C>T
ENST00000521576.1:c.423C>T ENSP00000429029.1:p.Gly141=
ENST00000524016.5:n.376C>T
NM_152419.2:c.1272C>T NP_689632.2:p.Gly424=
XM_005273409.1:c.1272C>T XP_005273466.1:p.Gly424=
XM_005273410.1:c.1272C>T XP_005273467.1:p.Gly424=
XM_005273411.1:c.1080C>T XP_005273468.1:p.Gly360=
XM_005273412.2:c.1272C>T XP_005273469.1:p.Gly424=
NM_001363227.1:c.1272C>T NP_001350156.1:p.Gly424=
NM_001363228.1:c.1080C>T NP_001350157.1:p.Gly360=
NM_001363229.1:c.408C>T NP_001350158.1:p.Gly136=
XM_005273412.4:c.1272C>T XP_005273469.1:p.Gly424=
NM_152419.3:c.1272C>T MANE Select NP_689632.2:p.Gly424=
NM_001363227.2:c.1272C>T NP_001350156.1:p.Gly424=
NM_001363228.2:c.1080C>T NP_001350157.1:p.Gly360=
NM_001363229.2:c.408C>T NP_001350158.1:p.Gly136=