Canonical Allele Identifier: CA176073841

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1253904
• ClinVar RCV Id: RCV001665047
• dbSNP Id: rs138219144
• gnomAD v2: 8-43047317-C-T
• gnomAD v3: 8-43192174-C-T
• gnomAD v4: 8-43192174-C-T
• MyVariant Identifiers: chr8:g.43047317C>T (hg19) ; chr8:g.43192174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192174C>T , CM000670.2:g.43192174C>T	GRCh38
NC_000008.10:g.43047317C>T , CM000670.1:g.43047317C>T	GRCh37
NC_000008.9:g.43166474C>T	NCBI36
NG_009552.1:g.56726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1251-130C>T MANE Select	ENSP00000368965.4:n.1251-130C>T
ENST00000379644.8:c.1251-130C>T	ENSP00000368965.4:n.1251-130C>T
ENST00000520678.1:n.184-130C>T
ENST00000521576.1:c.402-130C>T	ENSP00000429029.1:n.402-130C>T
ENST00000524016.5:c.355-130C>T
NM_152419.2:c.1251-130C>T	NP_689632.2:n.1251-130C>T
XM_005273409.1:c.1251-130C>T	XP_005273466.1:n.1251-130C>T
XM_005273410.1:c.1251-130C>T	XP_005273467.1:n.1251-130C>T
XM_005273411.1:c.1059-130C>T	XP_005273468.1:n.1059-130C>T
XM_005273412.2:c.1251-130C>T	XP_005273469.1:n.1251-130C>T
NM_001363227.1:c.1251-130C>T	NP_001350156.1:n.1251-130C>T
NM_001363228.1:c.1059-130C>T	NP_001350157.1:n.1059-130C>T
NM_001363229.1:c.387-130C>T	NP_001350158.1:n.387-130C>T
XM_005273412.4:c.1251-130C>T	XP_005273469.1:n.1251-130C>T
NM_152419.3:c.1251-130C>T MANE Select	NP_689632.2:n.1251-130C>T
NM_001363227.2:c.1251-130C>T	NP_001350156.1:n.1251-130C>T
NM_001363228.2:c.1059-130C>T	NP_001350157.1:n.1059-130C>T
NM_001363229.2:c.387-130C>T	NP_001350158.1:n.387-130C>T