Canonical Allele Identifier: CA4736955
Gene: HGSNAT HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.43197696A>C
GRCh37 chr8:g.43052839A>C
Revel Score:
ENST00000458501 0.449
ENST00000379644 (MANE Select) 0.449
ENST00000521576 0.449
ENST00000297798 0.449
gnomAD v2:
8:43052839 A / C
gnomAD v3:
8:43197696 A / C
gnomAD v4:
chr8-43197696-A-C
Joint Max Group AF 0.11620818 (AFR)
Genomes Max Group AF 0.11526857 (AFR)
Exomes Max Group AF 0.11548029 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43197696A>C , CM000670.2:g.43197696A>C GRCh38
NC_000008.10:g.43052839A>C , CM000670.1:g.43052839A>C GRCh37
NC_000008.9:g.43171996A>C NCBI36
NG_009552.1:g.62248A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.1567A>C MANE Select ENSP00000368965.4:p.Lys523Gln
ENST00000379644.8:c.1567A>C ENSP00000368965.4:p.Lys523Gln
ENST00000519705.1:n.883A>C
ENST00000521576.1:c.718A>C ENSP00000429029.1:p.Lys240Gln
ENST00000523989.1:n.1880A>C
NM_152419.2:c.1567A>C NP_689632.2:p.Lys523Gln
XM_005273409.1:c.1678A>C XP_005273466.1:p.Lys560Gln
XM_005273410.1:c.1654A>C XP_005273467.1:p.Lys552Gln
XM_005273411.1:c.1486A>C XP_005273468.1:p.Lys496Gln
NM_001363227.1:c.1654A>C NP_001350156.1:p.Lys552Gln
NM_001363228.1:c.1375A>C NP_001350157.1:p.Lys459Gln
NM_001363229.1:c.703A>C NP_001350158.1:p.Lys235Gln
NM_152419.3:c.1567A>C MANE Select NP_689632.2:p.Lys523Gln
NM_001363227.2:c.1654A>C NP_001350156.1:p.Lys552Gln
NM_001363228.2:c.1375A>C NP_001350157.1:p.Lys459Gln
NM_001363229.2:c.703A>C NP_001350158.1:p.Lys235Gln
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