Canonical Allele Identifier: CA4736917

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43196978C>T , CM000670.2:g.43196978C>T	GRCh38
NC_000008.10:g.43052121C>T , CM000670.1:g.43052121C>T	GRCh37
NC_000008.9:g.43171278C>T	NCBI36
NG_009552.1:g.61530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1495C>T MANE Select	NP_689632.2:p.Arg499Trp
ENST00000379644.9:c.1495C>T MANE Select	ENSP00000368965.4:p.Arg499Trp
NM_001363227.1:c.1582C>T	NP_001350156.1:p.Arg528Trp
NM_001363227.2:c.1582C>T	NP_001350156.1:p.Arg528Trp
NM_001363228.1:c.1303C>T	NP_001350157.1:p.Arg435Trp
NM_001363228.2:c.1303C>T	NP_001350157.1:p.Arg435Trp
NM_001363229.1:c.631C>T	NP_001350158.1:p.Arg211Trp
NM_001363229.2:c.631C>T	NP_001350158.1:p.Arg211Trp
NM_152419.2:c.1495C>T	NP_689632.2:p.Arg499Trp
ENST00000379644.8:c.1495C>T	ENSP00000368965.4:p.Arg499Trp
ENST00000519705.1:n.811C>T
ENST00000521576.1:c.646C>T	ENSP00000429029.1:p.Arg216Trp
ENST00000523989.1:n.1162C>T
ENST00000524016.5:c.710C>T
XM_005273409.1:c.1606C>T	XP_005273466.1:p.Arg536Trp
XM_005273410.1:c.1582C>T	XP_005273467.1:p.Arg528Trp
XM_005273411.1:c.1414C>T	XP_005273468.1:p.Arg472Trp