Canonical Allele Identifier: CA371116552

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173743G>A , CM000670.2:g.43173743G>A	GRCh38
NC_000008.10:g.43028886G>A , CM000670.1:g.43028886G>A	GRCh37
NC_000008.9:g.43148043G>A	NCBI36
NG_009552.1:g.38295G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.851G>A MANE Select	NP_689632.2:p.Trp284Ter
ENST00000379644.9:c.851G>A MANE Select	ENSP00000368965.4:p.Trp284Ter
NM_001363227.1:c.851G>A	NP_001350156.1:p.Trp284Ter
NM_001363227.2:c.851G>A	NP_001350156.1:p.Trp284Ter
NM_001363228.1:c.820+1357G>A	NP_001350157.1:n.820+1357G>A
NM_001363228.2:c.820+1357G>A	NP_001350157.1:n.820+1357G>A
NM_001363229.1:c.-14+1357G>A	NP_001350158.1:n.-14+1357G>A
NM_001363229.2:c.-14+1357G>A	NP_001350158.1:n.-14+1357G>A
NM_152419.2:c.851G>A	NP_689632.2:p.Trp284Ter
ENST00000379644.8:c.851G>A	ENSP00000368965.4:p.Trp284Ter
ENST00000520704.1:c.*300G>A	ENSP00000429109.1:n.*300G>A
ENST00000522082.5:c.92G>A	ENSP00000430151.1:p.Trp31Ter
XM_005273409.1:c.851G>A	XP_005273466.1:p.Trp284Ter
XM_005273410.1:c.851G>A	XP_005273467.1:p.Trp284Ter
XM_005273411.1:c.820+1357G>A	XP_005273468.1:n.820+1357G>A
XM_005273412.2:c.851G>A	XP_005273469.1:p.Trp284Ter
XM_005273412.4:c.851G>A	XP_005273469.1:p.Trp284Ter