Canonical Allele Identifier: CA1779769571
Gene: HGSNAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43173801C= , CM000670.2:g.43173801C= GRCh38
NC_000008.10:g.43028944C= , CM000670.1:g.43028944C= GRCh37
NC_000008.9:g.43148101C= NCBI36
NG_009552.1:g.38353C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.851+58C= MANE Select ENSP00000368965.4:n.851+58C=
ENST00000379644.8:c.851+58C= ENSP00000368965.4:n.851+58C=
ENST00000520704.1:c.*358C= ENSP00000429109.1:n.*358C=
ENST00000522082.5:c.92+58C= ENSP00000430151.1:n.92+58C=
NM_152419.2:c.851+58C= NP_689632.2:n.851+58C=
XM_005273409.1:c.851+58C= XP_005273466.1:n.851+58C=
XM_005273410.1:c.851+58C= XP_005273467.1:n.851+58C=
XM_005273411.1:c.820+1415C= XP_005273468.1:n.820+1415C=
XM_005273412.2:c.851+58C= XP_005273469.1:n.851+58C=
NM_001363227.1:c.851+58C= NP_001350156.1:n.851+58C=
NM_001363228.1:c.820+1415C= NP_001350157.1:n.820+1415C=
NM_001363229.1:c.-14+1415C= NP_001350158.1:n.-14+1415C=
XM_005273412.4:c.851+58C= XP_005273469.1:n.851+58C=
NM_152419.3:c.851+58C= MANE Select NP_689632.2:n.851+58C=
NM_001363227.2:c.851+58C= NP_001350156.1:n.851+58C=
NM_001363228.2:c.820+1415C= NP_001350157.1:n.820+1415C=
NM_001363229.2:c.-14+1415C= NP_001350158.1:n.-14+1415C=