Canonical Allele Identifier: CA371120549

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43052867C>A (hg19) ; chr8:g.43197724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197724C>A , CM000670.2:g.43197724C>A	GRCh38
NC_000008.10:g.43052867C>A , CM000670.1:g.43052867C>A	GRCh37
NC_000008.9:g.43172024C>A	NCBI36
NG_009552.1:g.62276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1595C>A MANE Select	ENSP00000368965.4:p.Pro532Gln
ENST00000379644.8:c.1595C>A	ENSP00000368965.4:p.Pro532Gln
ENST00000519705.1:n.911C>A
ENST00000521576.1:c.746C>A	ENSP00000429029.1:p.Pro249Gln
ENST00000523989.1:n.1908C>A
NM_152419.2:c.1595C>A	NP_689632.2:p.Pro532Gln
XM_005273409.1:c.1706C>A	XP_005273466.1:p.Pro569Gln
XM_005273410.1:c.1682C>A	XP_005273467.1:p.Pro561Gln
XM_005273411.1:c.1514C>A	XP_005273468.1:p.Pro505Gln
NM_001363227.1:c.1682C>A	NP_001350156.1:p.Pro561Gln
NM_001363228.1:c.1403C>A	NP_001350157.1:p.Pro468Gln
NM_001363229.1:c.731C>A	NP_001350158.1:p.Pro244Gln
NM_152419.3:c.1595C>A MANE Select	NP_689632.2:p.Pro532Gln
NM_001363227.2:c.1682C>A	NP_001350156.1:p.Pro561Gln
NM_001363228.2:c.1403C>A	NP_001350157.1:p.Pro468Gln
NM_001363229.2:c.731C>A	NP_001350158.1:p.Pro244Gln