Canonical Allele Identifier: CA371116505
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 425553
ClinVar RCV Id: RCV000488421
dbSNP Id: rs1085307112
MyVariant Identifiers: chr8:g.43028871A>C (hg19) chr8:g.43173728A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43173728A>C , CM000670.2:g.43173728A>C GRCh38
NC_000008.10:g.43028871A>C , CM000670.1:g.43028871A>C GRCh37
NC_000008.9:g.43148028A>C NCBI36
NG_009552.1:g.38280A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.836A>C MANE Select ENSP00000368965.4:p.Asp279Ala
ENST00000379644.8:c.836A>C ENSP00000368965.4:p.Asp279Ala
ENST00000520704.1:c.*285A>C ENSP00000429109.1:n.*285A>C
ENST00000522082.5:c.77A>C ENSP00000430151.1:p.Asp26Ala
NM_152419.2:c.836A>C NP_689632.2:p.Asp279Ala
XM_005273409.1:c.836A>C XP_005273466.1:p.Asp279Ala
XM_005273410.1:c.836A>C XP_005273467.1:p.Asp279Ala
XM_005273411.1:c.820+1342A>C XP_005273468.1:n.820+1342A>C
XM_005273412.2:c.836A>C XP_005273469.1:p.Asp279Ala
NM_001363227.1:c.836A>C NP_001350156.1:p.Asp279Ala
NM_001363228.1:c.820+1342A>C NP_001350157.1:n.820+1342A>C
NM_001363229.1:c.-14+1342A>C NP_001350158.1:n.-14+1342A>C
XM_005273412.4:c.836A>C XP_005273469.1:p.Asp279Ala
NM_152419.3:c.836A>C MANE Select NP_689632.2:p.Asp279Ala
NM_001363227.2:c.836A>C NP_001350156.1:p.Asp279Ala
NM_001363228.2:c.820+1342A>C NP_001350157.1:n.820+1342A>C
NM_001363229.2:c.-14+1342A>C NP_001350158.1:n.-14+1342A>C
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