Canonical Allele Identifier: CA371119889

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43048936G>C (hg19) ; chr8:g.43193793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193793G>C , CM000670.2:g.43193793G>C	GRCh38
NC_000008.10:g.43048936G>C , CM000670.1:g.43048936G>C	GRCh37
NC_000008.9:g.43168093G>C	NCBI36
NG_009552.1:g.58345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1414G>C MANE Select	ENSP00000368965.4:p.Gly472Arg
ENST00000379644.8:c.1414G>C	ENSP00000368965.4:p.Gly472Arg
ENST00000520678.1:n.347G>C
ENST00000521576.1:c.565G>C	ENSP00000429029.1:p.Gly189Arg
ENST00000524016.5:c.518G>C
NM_152419.2:c.1414G>C	NP_689632.2:p.Gly472Arg
XM_005273409.1:c.1414G>C	XP_005273466.1:p.Gly472Arg
XM_005273410.1:c.1414G>C	XP_005273467.1:p.Gly472Arg
XM_005273411.1:c.1222G>C	XP_005273468.1:p.Gly408Arg
XM_005273412.2:c.1414G>C	XP_005273469.1:p.Gly472Arg
NM_001363227.1:c.1414G>C	NP_001350156.1:p.Gly472Arg
NM_001363228.1:c.1222G>C	NP_001350157.1:p.Gly408Arg
NM_001363229.1:c.550G>C	NP_001350158.1:p.Gly184Arg
XM_005273412.4:c.1414G>C	XP_005273469.1:p.Gly472Arg
NM_152419.3:c.1414G>C MANE Select	NP_689632.2:p.Gly472Arg
NM_001363227.2:c.1414G>C	NP_001350156.1:p.Gly472Arg
NM_001363228.2:c.1222G>C	NP_001350157.1:p.Gly408Arg
NM_001363229.2:c.550G>C	NP_001350158.1:p.Gly184Arg