Canonical Allele Identifier: CA4736879

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1020636
• ClinVar RCV Id: RCV001320247 ; RCV001830337
• dbSNP Id: rs746875137
• ExAC: 8:43048963 G / T
• gnomAD v2: 8-43048963-G-T
• gnomAD v3: 8-43193820-G-T
• gnomAD v4: 8-43193820-G-T
• MyVariant Identifiers: chr8:g.43048963G>T (hg19) ; chr8:g.43193820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193820G>T , CM000670.2:g.43193820G>T	GRCh38
NC_000008.10:g.43048963G>T , CM000670.1:g.43048963G>T	GRCh37
NC_000008.9:g.43168120G>T	NCBI36
NG_009552.1:g.58372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1441G>T MANE Select	ENSP00000368965.4:p.Val481Leu
ENST00000379644.8:c.1441G>T	ENSP00000368965.4:p.Val481Leu
ENST00000520678.1:n.374G>T
ENST00000521576.1:c.592G>T	ENSP00000429029.1:p.Val198Leu
ENST00000524016.5:c.545G>T
NM_152419.2:c.1441G>T	NP_689632.2:p.Val481Leu
XM_005273409.1:c.1441G>T	XP_005273466.1:p.Val481Leu
XM_005273410.1:c.1441G>T	XP_005273467.1:p.Val481Leu
XM_005273411.1:c.1249G>T	XP_005273468.1:p.Val417Leu
XM_005273412.2:c.1441G>T	XP_005273469.1:p.Val481Leu
NM_001363227.1:c.1441G>T	NP_001350156.1:p.Val481Leu
NM_001363228.1:c.1249G>T	NP_001350157.1:p.Val417Leu
NM_001363229.1:c.577G>T	NP_001350158.1:p.Val193Leu
XM_005273412.4:c.1441G>T	XP_005273469.1:p.Val481Leu
NM_152419.3:c.1441G>T MANE Select	NP_689632.2:p.Val481Leu
NM_001363227.2:c.1441G>T	NP_001350156.1:p.Val481Leu
NM_001363228.2:c.1249G>T	NP_001350157.1:p.Val417Leu
NM_001363229.2:c.577G>T	NP_001350158.1:p.Val193Leu