Canonical Allele Identifier: CA204929
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 208816
dbSNP Id: rs112029032
gnomAD v2: 8-43054647-G-A
gnomAD v3: 8-43199504-G-A
gnomAD v4: 8-43199504-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43199504G>A , CM000670.2:g.43199504G>A GRCh38
NC_000008.10:g.43054647G>A , CM000670.1:g.43054647G>A GRCh37
NC_000008.9:g.43173804G>A NCBI36
NG_009552.1:g.64056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.1843G>A MANE Select ENSP00000368965.4:p.Ala615Thr
ENST00000379644.8:c.1843G>A ENSP00000368965.4:p.Ala615Thr
ENST00000519705.1:n.1159G>A
ENST00000521576.1:c.994G>A ENSP00000429029.1:p.Ala332Thr
NM_152419.2:c.1843G>A NP_689632.2:p.Ala615Thr
XM_005273409.1:c.1954G>A XP_005273466.1:p.Ala652Thr
XM_005273410.1:c.1930G>A XP_005273467.1:p.Ala644Thr
XM_005273411.1:c.1762G>A XP_005273468.1:p.Ala588Thr
NM_001363227.1:c.1930G>A NP_001350156.1:p.Ala644Thr
NM_001363228.1:c.1651G>A NP_001350157.1:p.Ala551Thr
NM_001363229.1:c.979G>A NP_001350158.1:p.Ala327Thr
NM_152419.3:c.1843G>A MANE Select NP_689632.2:p.Ala615Thr
NM_001363227.2:c.1930G>A NP_001350156.1:p.Ala644Thr
NM_001363228.2:c.1651G>A NP_001350157.1:p.Ala551Thr
NM_001363229.2:c.979G>A NP_001350158.1:p.Ala327Thr