Canonical Allele Identifier: CA176073824
Gene: HGSNAT HGNC NCBI

Linked Data

dbSNP Id: rs186167085
gnomAD v3: 8-43192117-G-A
gnomAD v4: 8-43192117-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43192117G>A , CM000670.2:g.43192117G>A GRCh38
NC_000008.10:g.43047260G>A , CM000670.1:g.43047260G>A GRCh37
NC_000008.9:g.43166417G>A NCBI36
NG_009552.1:g.56669G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.1251-187G>A MANE Select ENSP00000368965.4:n.1251-187G>A
ENST00000379644.8:c.1251-187G>A ENSP00000368965.4:n.1251-187G>A
ENST00000520678.1:n.184-187G>A
ENST00000521576.1:c.402-187G>A ENSP00000429029.1:n.402-187G>A
ENST00000524016.5:c.355-187G>A
NM_152419.2:c.1251-187G>A NP_689632.2:n.1251-187G>A
XM_005273409.1:c.1251-187G>A XP_005273466.1:n.1251-187G>A
XM_005273410.1:c.1251-187G>A XP_005273467.1:n.1251-187G>A
XM_005273411.1:c.1059-187G>A XP_005273468.1:n.1059-187G>A
XM_005273412.2:c.1251-187G>A XP_005273469.1:n.1251-187G>A
NM_001363227.1:c.1251-187G>A NP_001350156.1:n.1251-187G>A
NM_001363228.1:c.1059-187G>A NP_001350157.1:n.1059-187G>A
NM_001363229.1:c.387-187G>A NP_001350158.1:n.387-187G>A
XM_005273412.4:c.1251-187G>A XP_005273469.1:n.1251-187G>A
NM_152419.3:c.1251-187G>A MANE Select NP_689632.2:n.1251-187G>A
NM_001363227.2:c.1251-187G>A NP_001350156.1:n.1251-187G>A
NM_001363228.2:c.1059-187G>A NP_001350157.1:n.1059-187G>A
NM_001363229.2:c.387-187G>A NP_001350158.1:n.387-187G>A