Canonical Allele Identifier: CA4736956

Gene: HGSNAT

Linked Data

• dbSNP Id: rs775346564
• ExAC: 8:43052855 A / G
• gnomAD v2: 8-43052855-A-G
• gnomAD v4: 8-43197712-A-G
• MyVariant Identifiers: chr8:g.43052855A>G (hg19) ; chr8:g.43197712A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197712A>G , CM000670.2:g.43197712A>G	GRCh38
NC_000008.10:g.43052855A>G , CM000670.1:g.43052855A>G	GRCh37
NC_000008.9:g.43172012A>G	NCBI36
NG_009552.1:g.62264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1583A>G MANE Select	ENSP00000368965.4:p.Glu528Gly
ENST00000379644.8:c.1583A>G	ENSP00000368965.4:p.Glu528Gly
ENST00000519705.1:n.899A>G
ENST00000521576.1:c.734A>G	ENSP00000429029.1:p.Glu245Gly
ENST00000523989.1:n.1896A>G
NM_152419.2:c.1583A>G	NP_689632.2:p.Glu528Gly
XM_005273409.1:c.1694A>G	XP_005273466.1:p.Glu565Gly
XM_005273410.1:c.1670A>G	XP_005273467.1:p.Glu557Gly
XM_005273411.1:c.1502A>G	XP_005273468.1:p.Glu501Gly
NM_001363227.1:c.1670A>G	NP_001350156.1:p.Glu557Gly
NM_001363228.1:c.1391A>G	NP_001350157.1:p.Glu464Gly
NM_001363229.1:c.719A>G	NP_001350158.1:p.Glu240Gly
NM_152419.3:c.1583A>G MANE Select	NP_689632.2:p.Glu528Gly
NM_001363227.2:c.1670A>G	NP_001350156.1:p.Glu557Gly
NM_001363228.2:c.1391A>G	NP_001350157.1:p.Glu464Gly
NM_001363229.2:c.719A>G	NP_001350158.1:p.Glu240Gly