Canonical Allele Identifier: CA371125042

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43158584C>T , CM000670.2:g.43158584C>T	GRCh38
NC_000008.10:g.43013727C>T , CM000670.1:g.43013727C>T	GRCh37
NC_000008.9:g.43132884C>T	NCBI36
NG_009552.1:g.23136C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.244C>T MANE Select	NP_689632.2:p.Gln82Ter
ENST00000379644.9:c.244C>T MANE Select	ENSP00000368965.4:p.Gln82Ter
NM_001363227.1:c.244C>T	NP_001350156.1:p.Gln82Ter
NM_001363227.2:c.244C>T	NP_001350156.1:p.Gln82Ter
NM_001363228.1:c.244C>T	NP_001350157.1:p.Gln82Ter
NM_001363228.2:c.244C>T	NP_001350157.1:p.Gln82Ter
NM_001363229.1:c.-590C>T	NP_001350158.1:n.-590C>T
NM_001363229.2:c.-590C>T	NP_001350158.1:n.-590C>T
NM_152419.2:c.244C>T	NP_689632.2:p.Gln82Ter
ENST00000379644.8:c.244C>T	ENSP00000368965.4:p.Gln82Ter
ENST00000517319.1:c.235-339C>T	ENSP00000430032.1:n.235-339C>T
ENST00000520704.1:c.94C>T	ENSP00000429109.1:p.Gln32Ter
XM_005273409.1:c.244C>T	XP_005273466.1:p.Gln82Ter
XM_005273410.1:c.244C>T	XP_005273467.1:p.Gln82Ter
XM_005273411.1:c.244C>T	XP_005273468.1:p.Gln82Ter
XM_005273412.2:c.244C>T	XP_005273469.1:p.Gln82Ter
XM_005273412.4:c.244C>T	XP_005273469.1:p.Gln82Ter