Canonical Allele Identifier: CA371121083

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054548G>C (hg19) ; chr8:g.43199405G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199405G>C , CM000670.2:g.43199405G>C	GRCh38
NC_000008.10:g.43054548G>C , CM000670.1:g.43054548G>C	GRCh37
NC_000008.9:g.43173705G>C	NCBI36
NG_009552.1:g.63957G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1744G>C MANE Select	ENSP00000368965.4:p.Val582Leu
ENST00000379644.8:c.1744G>C	ENSP00000368965.4:p.Val582Leu
ENST00000519705.1:n.1060G>C
ENST00000521576.1:c.895G>C	ENSP00000429029.1:p.Val299Leu
NM_152419.2:c.1744G>C	NP_689632.2:p.Val582Leu
XM_005273409.1:c.1855G>C	XP_005273466.1:p.Val619Leu
XM_005273410.1:c.1831G>C	XP_005273467.1:p.Val611Leu
XM_005273411.1:c.1663G>C	XP_005273468.1:p.Val555Leu
NM_001363227.1:c.1831G>C	NP_001350156.1:p.Val611Leu
NM_001363228.1:c.1552G>C	NP_001350157.1:p.Val518Leu
NM_001363229.1:c.880G>C	NP_001350158.1:p.Val294Leu
NM_152419.3:c.1744G>C MANE Select	NP_689632.2:p.Val582Leu
NM_001363227.2:c.1831G>C	NP_001350156.1:p.Val611Leu
NM_001363228.2:c.1552G>C	NP_001350157.1:p.Val518Leu
NM_001363229.2:c.880G>C	NP_001350158.1:p.Val294Leu