Canonical Allele Identifier: CA371116538

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1488117
• ClinVar RCV Id: RCV002009085
• dbSNP Id: rs2130754863
• MyVariant Identifiers: chr8:g.43028882C>T (hg19) ; chr8:g.43173739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173739C>T , CM000670.2:g.43173739C>T	GRCh38
NC_000008.10:g.43028882C>T , CM000670.1:g.43028882C>T	GRCh37
NC_000008.9:g.43148039C>T	NCBI36
NG_009552.1:g.38291C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.847C>T MANE Select	ENSP00000368965.4:p.Pro283Ser
ENST00000379644.8:c.847C>T	ENSP00000368965.4:p.Pro283Ser
ENST00000520704.1:c.*296C>T	ENSP00000429109.1:n.*296C>T
ENST00000522082.5:c.88C>T	ENSP00000430151.1:p.Pro30Ser
NM_152419.2:c.847C>T	NP_689632.2:p.Pro283Ser
XM_005273409.1:c.847C>T	XP_005273466.1:p.Pro283Ser
XM_005273410.1:c.847C>T	XP_005273467.1:p.Pro283Ser
XM_005273411.1:c.820+1353C>T	XP_005273468.1:n.820+1353C>T
XM_005273412.2:c.847C>T	XP_005273469.1:p.Pro283Ser
NM_001363227.1:c.847C>T	NP_001350156.1:p.Pro283Ser
NM_001363228.1:c.820+1353C>T	NP_001350157.1:n.820+1353C>T
NM_001363229.1:c.-14+1353C>T	NP_001350158.1:n.-14+1353C>T
XM_005273412.4:c.847C>T	XP_005273469.1:p.Pro283Ser
NM_152419.3:c.847C>T MANE Select	NP_689632.2:p.Pro283Ser
NM_001363227.2:c.847C>T	NP_001350156.1:p.Pro283Ser
NM_001363228.2:c.820+1353C>T	NP_001350157.1:n.820+1353C>T
NM_001363229.2:c.-14+1353C>T	NP_001350158.1:n.-14+1353C>T