Canonical Allele Identifier: CA1779762415
Gene: HGSNAT HGNC NCBI

Linked Data

dbSNP Id: rs1804766979

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43197604G>T , CM000670.2:g.43197604G>T GRCh38
NC_000008.10:g.43052747G>T , CM000670.1:g.43052747G>T GRCh37
NC_000008.9:g.43171904G>T NCBI36
NG_009552.1:g.62156G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1543-68G>T MANE Select ENSP00000368965.4:n.1543-68G>T
ENST00000379644.8:c.1543-68G>T ENSP00000368965.4:n.1543-68G>T
ENST00000519705.1:n.859-68G>T
ENST00000521576.1:c.694-68G>T ENSP00000429029.1:n.694-68G>T
ENST00000523989.1:n.1788G>T
NM_152419.2:c.1543-68G>T NP_689632.2:n.1543-68G>T
XM_005273409.1:c.1654-68G>T XP_005273466.1:n.1654-68G>T
XM_005273410.1:c.1630-68G>T XP_005273467.1:n.1630-68G>T
XM_005273411.1:c.1462-68G>T XP_005273468.1:n.1462-68G>T
NM_001363227.1:c.1630-68G>T NP_001350156.1:n.1630-68G>T
NM_001363228.1:c.1351-68G>T NP_001350157.1:n.1351-68G>T
NM_001363229.1:c.679-68G>T NP_001350158.1:n.679-68G>T
NM_152419.3:c.1543-68G>T MANE Select NP_689632.2:n.1543-68G>T
NM_001363227.2:c.1630-68G>T NP_001350156.1:n.1630-68G>T
NM_001363228.2:c.1351-68G>T NP_001350157.1:n.1351-68G>T
NM_001363229.2:c.679-68G>T NP_001350158.1:n.679-68G>T