Canonical Allele Identifier: CA2687154308

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43197618-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197618T>G , CM000670.2:g.43197618T>G	GRCh38
NC_000008.10:g.43052761T>G , CM000670.1:g.43052761T>G	GRCh37
NC_000008.9:g.43171918T>G	NCBI36
NG_009552.1:g.62170T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-54T>G MANE Select	ENSP00000368965.4:n.1543-54T>G
ENST00000379644.8:c.1543-54T>G	ENSP00000368965.4:n.1543-54T>G
ENST00000519705.1:n.859-54T>G
ENST00000521576.1:c.694-54T>G	ENSP00000429029.1:n.694-54T>G
ENST00000523989.1:n.1802T>G
NM_152419.2:c.1543-54T>G	NP_689632.2:n.1543-54T>G
XM_005273409.1:c.1654-54T>G	XP_005273466.1:n.1654-54T>G
XM_005273410.1:c.1630-54T>G	XP_005273467.1:n.1630-54T>G
XM_005273411.1:c.1462-54T>G	XP_005273468.1:n.1462-54T>G
NM_001363227.1:c.1630-54T>G	NP_001350156.1:n.1630-54T>G
NM_001363228.1:c.1351-54T>G	NP_001350157.1:n.1351-54T>G
NM_001363229.1:c.679-54T>G	NP_001350158.1:n.679-54T>G
NM_152419.3:c.1543-54T>G MANE Select	NP_689632.2:n.1543-54T>G
NM_001363227.2:c.1630-54T>G	NP_001350156.1:n.1630-54T>G
NM_001363228.2:c.1351-54T>G	NP_001350157.1:n.1351-54T>G
NM_001363229.2:c.679-54T>G	NP_001350158.1:n.679-54T>G