Canonical Allele Identifier: CA4736923

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43196999C>T , CM000670.2:g.43196999C>T	GRCh38
NC_000008.10:g.43052142C>T , CM000670.1:g.43052142C>T	GRCh37
NC_000008.9:g.43171299C>T	NCBI36
NG_009552.1:g.61551C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1516C>T MANE Select	NP_689632.2:p.Arg506Ter
ENST00000379644.9:c.1516C>T MANE Select	ENSP00000368965.4:p.Arg506Ter
NM_001363227.1:c.1603C>T	NP_001350156.1:p.Arg535Ter
NM_001363227.2:c.1603C>T	NP_001350156.1:p.Arg535Ter
NM_001363228.1:c.1324C>T	NP_001350157.1:p.Arg442Ter
NM_001363228.2:c.1324C>T	NP_001350157.1:p.Arg442Ter
NM_001363229.1:c.652C>T	NP_001350158.1:p.Arg218Ter
NM_001363229.2:c.652C>T	NP_001350158.1:p.Arg218Ter
NM_152419.2:c.1516C>T	NP_689632.2:p.Arg506Ter
ENST00000379644.8:c.1516C>T	ENSP00000368965.4:p.Arg506Ter
ENST00000519705.1:n.832C>T
ENST00000521576.1:c.667C>T	ENSP00000429029.1:p.Arg223Ter
ENST00000523989.1:n.1183C>T
ENST00000524016.5:c.731C>T
XM_005273409.1:c.1627C>T	XP_005273466.1:p.Arg543Ter
XM_005273410.1:c.1603C>T	XP_005273467.1:p.Arg535Ter
XM_005273411.1:c.1435C>T	XP_005273468.1:p.Arg479Ter