Canonical Allele Identifier: CA1113270134
Gene: HGSNAT HGNC NCBI

Linked Data

dbSNP Id: rs1802471382
gnomAD v3: 8-43140452-G-A
gnomAD v4: 8-43140452-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43140452G>A , CM000670.2:g.43140452G>A GRCh38
NC_000008.10:g.42995595G>A , CM000670.1:g.42995595G>A GRCh37
NC_000008.9:g.43114752G>A NCBI36
NG_009552.1:g.5004G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152419.2:c.-45G>A NP_689632.2:n.-45G>A
XM_005273409.1:c.-45G>A XP_005273466.1:n.-45G>A
XM_005273410.1:c.-45G>A XP_005273467.1:n.-45G>A
XM_005273411.1:c.-45G>A XP_005273468.1:n.-45G>A
XM_005273412.2:c.-45G>A XP_005273469.1:n.-45G>A
XM_005273412.4:c.-45G>A XP_005273469.1:n.-45G>A
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