Canonical Allele Identifier: CA460580543
Gene: HGSNAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.43054532A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43199389A>T , CM000670.2:g.43199389A>T GRCh38
NC_000008.10:g.43054532A>T , CM000670.1:g.43054532A>T GRCh37
NC_000008.9:g.43173689A>T NCBI36
NG_009552.1:g.63941A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.1728A>T MANE Select ENSP00000368965.4:p.Gly576=
ENST00000379644.8:c.1728A>T ENSP00000368965.4:p.Gly576=
ENST00000519705.1:n.1044A>T
ENST00000521576.1:c.879A>T ENSP00000429029.1:p.Gly293=
NM_152419.2:c.1728A>T NP_689632.2:p.Gly576=
XM_005273409.1:c.1839A>T XP_005273466.1:p.Gly613=
XM_005273410.1:c.1815A>T XP_005273467.1:p.Gly605=
XM_005273411.1:c.1647A>T XP_005273468.1:p.Gly549=
NM_001363227.1:c.1815A>T NP_001350156.1:p.Gly605=
NM_001363228.1:c.1536A>T NP_001350157.1:p.Gly512=
NM_001363229.1:c.864A>T NP_001350158.1:p.Gly288=
NM_152419.3:c.1728A>T MANE Select NP_689632.2:p.Gly576=
NM_001363227.2:c.1815A>T NP_001350156.1:p.Gly605=
NM_001363228.2:c.1536A>T NP_001350157.1:p.Gly512=
NM_001363229.2:c.864A>T NP_001350158.1:p.Gly288=