Canonical Allele Identifier: CA4736839

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1116361
• ClinVar RCV Id: RCV001444701
• dbSNP Id: rs759417010
• ExAC: 8:43047498 C / T
• gnomAD v2: 8-43047498-C-T
• gnomAD v4: 8-43192355-C-T
• MyVariant Identifiers: chr8:g.43047498C>T (hg19) ; chr8:g.43192355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192355C>T , CM000670.2:g.43192355C>T	GRCh38
NC_000008.10:g.43047498C>T , CM000670.1:g.43047498C>T	GRCh37
NC_000008.9:g.43166655C>T	NCBI36
NG_009552.1:g.56907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1302C>T MANE Select	ENSP00000368965.4:p.Cys434=
ENST00000379644.8:c.1302C>T	ENSP00000368965.4:p.Cys434=
ENST00000520678.1:n.235C>T
ENST00000521576.1:c.453C>T	ENSP00000429029.1:p.Cys151=
ENST00000524016.5:c.406C>T
NM_152419.2:c.1302C>T	NP_689632.2:p.Cys434=
XM_005273409.1:c.1302C>T	XP_005273466.1:p.Cys434=
XM_005273410.1:c.1302C>T	XP_005273467.1:p.Cys434=
XM_005273411.1:c.1110C>T	XP_005273468.1:p.Cys370=
XM_005273412.2:c.1302C>T	XP_005273469.1:p.Cys434=
NM_001363227.1:c.1302C>T	NP_001350156.1:p.Cys434=
NM_001363228.1:c.1110C>T	NP_001350157.1:p.Cys370=
NM_001363229.1:c.438C>T	NP_001350158.1:p.Cys146=
XM_005273412.4:c.1302C>T	XP_005273469.1:p.Cys434=
NM_152419.3:c.1302C>T MANE Select	NP_689632.2:p.Cys434=
NM_001363227.2:c.1302C>T	NP_001350156.1:p.Cys434=
NM_001363228.2:c.1110C>T	NP_001350157.1:p.Cys370=
NM_001363229.2:c.438C>T	NP_001350158.1:p.Cys146=