Canonical Allele Identifier: CA371119987

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43193841-C-T
• MyVariant Identifiers: chr8:g.43048984C>T (hg19) ; chr8:g.43193841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193841C>T , CM000670.2:g.43193841C>T	GRCh38
NC_000008.10:g.43048984C>T , CM000670.1:g.43048984C>T	GRCh37
NC_000008.9:g.43168141C>T	NCBI36
NG_009552.1:g.58393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1462C>T MANE Select	ENSP00000368965.4:p.Gln488Ter
ENST00000379644.8:c.1462C>T	ENSP00000368965.4:p.Gln488Ter
ENST00000520678.1:n.395C>T
ENST00000521576.1:c.613C>T	ENSP00000429029.1:p.Gln205Ter
ENST00000524016.5:c.566C>T
NM_152419.2:c.1462C>T	NP_689632.2:p.Gln488Ter
XM_005273409.1:c.1462C>T	XP_005273466.1:p.Gln488Ter
XM_005273410.1:c.1462C>T	XP_005273467.1:p.Gln488Ter
XM_005273411.1:c.1270C>T	XP_005273468.1:p.Gln424Ter
XM_005273412.2:c.1462C>T	XP_005273469.1:p.Gln488Ter
NM_001363227.1:c.1462C>T	NP_001350156.1:p.Gln488Ter
NM_001363228.1:c.1270C>T	NP_001350157.1:p.Gln424Ter
NM_001363229.1:c.598C>T	NP_001350158.1:p.Gln200Ter
XM_005273412.4:c.1462C>T	XP_005273469.1:p.Gln488Ter
NM_152419.3:c.1462C>T MANE Select	NP_689632.2:p.Gln488Ter
NM_001363227.2:c.1462C>T	NP_001350156.1:p.Gln488Ter
NM_001363228.2:c.1270C>T	NP_001350157.1:p.Gln424Ter
NM_001363229.2:c.598C>T	NP_001350158.1:p.Gln200Ter