Canonical Allele Identifier: CA851972968

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1277942893
• gnomAD v3: 8-43197599-T-A
• gnomAD v4: 8-43197599-T-A
• MyVariant Identifiers: chr8:g.43052742T>A (hg19) ; chr8:g.43197599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197599T>A , CM000670.2:g.43197599T>A	GRCh38
NC_000008.10:g.43052742T>A , CM000670.1:g.43052742T>A	GRCh37
NC_000008.9:g.43171899T>A	NCBI36
NG_009552.1:g.62151T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-73T>A MANE Select	ENSP00000368965.4:n.1543-73T>A
ENST00000379644.8:c.1543-73T>A	ENSP00000368965.4:n.1543-73T>A
ENST00000519705.1:n.859-73T>A
ENST00000521576.1:c.694-73T>A	ENSP00000429029.1:n.694-73T>A
ENST00000523989.1:n.1783T>A
NM_152419.2:c.1543-73T>A	NP_689632.2:n.1543-73T>A
XM_005273409.1:c.1654-73T>A	XP_005273466.1:n.1654-73T>A
XM_005273410.1:c.1630-73T>A	XP_005273467.1:n.1630-73T>A
XM_005273411.1:c.1462-73T>A	XP_005273468.1:n.1462-73T>A
NM_001363227.1:c.1630-73T>A	NP_001350156.1:n.1630-73T>A
NM_001363228.1:c.1351-73T>A	NP_001350157.1:n.1351-73T>A
NM_001363229.1:c.679-73T>A	NP_001350158.1:n.679-73T>A
NM_152419.3:c.1543-73T>A MANE Select	NP_689632.2:n.1543-73T>A
NM_001363227.2:c.1630-73T>A	NP_001350156.1:n.1630-73T>A
NM_001363228.2:c.1351-73T>A	NP_001350157.1:n.1351-73T>A
NM_001363229.2:c.679-73T>A	NP_001350158.1:n.679-73T>A