Canonical Allele Identifier: CA371120990

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1334098296
• gnomAD v2: 8-43054529-A-C
• gnomAD v4: 8-43199386-A-C
• MyVariant Identifiers: chr8:g.43054529A>C (hg19) ; chr8:g.43199386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199386A>C , CM000670.2:g.43199386A>C	GRCh38
NC_000008.10:g.43054529A>C , CM000670.1:g.43054529A>C	GRCh37
NC_000008.9:g.43173686A>C	NCBI36
NG_009552.1:g.63938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1727-2A>C MANE Select	ENSP00000368965.4:n.1727-2A>C
ENST00000379644.8:c.1727-2A>C	ENSP00000368965.4:n.1727-2A>C
ENST00000519705.1:n.1043-2A>C
ENST00000521576.1:c.878-2A>C	ENSP00000429029.1:n.878-2A>C
NM_152419.2:c.1727-2A>C	NP_689632.2:n.1727-2A>C
XM_005273409.1:c.1838-2A>C	XP_005273466.1:n.1838-2A>C
XM_005273410.1:c.1814-2A>C	XP_005273467.1:n.1814-2A>C
XM_005273411.1:c.1646-2A>C	XP_005273468.1:n.1646-2A>C
NM_001363227.1:c.1814-2A>C	NP_001350156.1:n.1814-2A>C
NM_001363228.1:c.1535-2A>C	NP_001350157.1:n.1535-2A>C
NM_001363229.1:c.863-2A>C	NP_001350158.1:n.863-2A>C
NM_152419.3:c.1727-2A>C MANE Select	NP_689632.2:n.1727-2A>C
NM_001363227.2:c.1814-2A>C	NP_001350156.1:n.1814-2A>C
NM_001363228.2:c.1535-2A>C	NP_001350157.1:n.1535-2A>C
NM_001363229.2:c.863-2A>C	NP_001350158.1:n.863-2A>C