Canonical Allele Identifier: CA371120541

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43197720-A-G
• MyVariant Identifiers: chr8:g.43052863A>G (hg19) ; chr8:g.43197720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197720A>G , CM000670.2:g.43197720A>G	GRCh38
NC_000008.10:g.43052863A>G , CM000670.1:g.43052863A>G	GRCh37
NC_000008.9:g.43172020A>G	NCBI36
NG_009552.1:g.62272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1591A>G MANE Select	ENSP00000368965.4:p.Ile531Val
ENST00000379644.8:c.1591A>G	ENSP00000368965.4:p.Ile531Val
ENST00000519705.1:n.907A>G
ENST00000521576.1:c.742A>G	ENSP00000429029.1:p.Ile248Val
ENST00000523989.1:n.1904A>G
NM_152419.2:c.1591A>G	NP_689632.2:p.Ile531Val
XM_005273409.1:c.1702A>G	XP_005273466.1:p.Ile568Val
XM_005273410.1:c.1678A>G	XP_005273467.1:p.Ile560Val
XM_005273411.1:c.1510A>G	XP_005273468.1:p.Ile504Val
NM_001363227.1:c.1678A>G	NP_001350156.1:p.Ile560Val
NM_001363228.1:c.1399A>G	NP_001350157.1:p.Ile467Val
NM_001363229.1:c.727A>G	NP_001350158.1:p.Ile243Val
NM_152419.3:c.1591A>G MANE Select	NP_689632.2:p.Ile531Val
NM_001363227.2:c.1678A>G	NP_001350156.1:p.Ile560Val
NM_001363228.2:c.1399A>G	NP_001350157.1:p.Ile467Val
NM_001363229.2:c.727A>G	NP_001350158.1:p.Ile243Val