Canonical Allele Identifier: CA371121337

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054596A>C (hg19) ; chr8:g.43199453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199453A>C , CM000670.2:g.43199453A>C	GRCh38
NC_000008.10:g.43054596A>C , CM000670.1:g.43054596A>C	GRCh37
NC_000008.9:g.43173753A>C	NCBI36
NG_009552.1:g.64005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1792A>C MANE Select	ENSP00000368965.4:p.Lys598Gln
ENST00000379644.8:c.1792A>C	ENSP00000368965.4:p.Lys598Gln
ENST00000519705.1:n.1108A>C
ENST00000521576.1:c.943A>C	ENSP00000429029.1:p.Lys315Gln
NM_152419.2:c.1792A>C	NP_689632.2:p.Lys598Gln
XM_005273409.1:c.1903A>C	XP_005273466.1:p.Lys635Gln
XM_005273410.1:c.1879A>C	XP_005273467.1:p.Lys627Gln
XM_005273411.1:c.1711A>C	XP_005273468.1:p.Lys571Gln
NM_001363227.1:c.1879A>C	NP_001350156.1:p.Lys627Gln
NM_001363228.1:c.1600A>C	NP_001350157.1:p.Lys534Gln
NM_001363229.1:c.928A>C	NP_001350158.1:p.Lys310Gln
NM_152419.3:c.1792A>C MANE Select	NP_689632.2:p.Lys598Gln
NM_001363227.2:c.1879A>C	NP_001350156.1:p.Lys627Gln
NM_001363228.2:c.1600A>C	NP_001350157.1:p.Lys534Gln
NM_001363229.2:c.928A>C	NP_001350158.1:p.Lys310Gln