Canonical Allele Identifier: CA4736997

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197919G>C , CM000670.2:g.43197919G>C	GRCh38
NC_000008.10:g.43053062G>C , CM000670.1:g.43053062G>C	GRCh37
NC_000008.9:g.43172219G>C	NCBI36
NG_009552.1:g.62471G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1693G>C MANE Select	ENSP00000368965.4:p.Gly565Arg
ENST00000379644.8:c.1693G>C	ENSP00000368965.4:p.Gly565Arg
ENST00000519705.1:n.1009G>C
ENST00000521576.1:c.844G>C	ENSP00000429029.1:p.Gly282Arg
NM_152419.2:c.1693G>C	NP_689632.2:p.Gly565Arg
XM_005273409.1:c.1804G>C	XP_005273466.1:p.Gly602Arg
XM_005273410.1:c.1780G>C	XP_005273467.1:p.Gly594Arg
XM_005273411.1:c.1612G>C	XP_005273468.1:p.Gly538Arg
NM_001363227.1:c.1780G>C	NP_001350156.1:p.Gly594Arg
NM_001363228.1:c.1501G>C	NP_001350157.1:p.Gly501Arg
NM_001363229.1:c.829G>C	NP_001350158.1:p.Gly277Arg
NM_152419.3:c.1693G>C MANE Select	NP_689632.2:p.Gly565Arg
NM_001363227.2:c.1780G>C	NP_001350156.1:p.Gly594Arg
NM_001363228.2:c.1501G>C	NP_001350157.1:p.Gly501Arg
NM_001363229.2:c.829G>C	NP_001350158.1:p.Gly277Arg