Canonical Allele Identifier: CA147021361
Gene: SAMD3 HGNC NCBI
dbSNP:
10447419
gnomAD v2:
6:130550063 C / A
gnomAD v3:
6:130228918 C / A
gnomAD v4:
chr6-130228918-C-A
Joint Max Group AF 0.45569388 (EAS)
Genomes Max Group AF 0.45569388 (EAS)
MyVariant.info:
GRCh38 chr6:g.130228918C>A
GRCh37 chr6:g.130550063C>A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.130228918C>A , CM000668.2:g.130228918C>A GRCh38
NC_000006.11:g.130550063C>A , CM000668.1:g.130550063C>A GRCh37
NC_000006.10:g.130591756C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368134.6:c.-187-6105G>T ENSP00000357116.2:n.-187-6105G>T
ENST00000529119.1:n.70-6105G>T
NM_001258275.2:c.-187-6105G>T NP_001245204.1:n.-187-6105G>T
XM_024446334.1:c.-187-6105G>T XP_024302102.1:n.-187-6105G>T
XM_024446335.1:c.-187-6105G>T XP_024302103.1:n.-187-6105G>T
NM_001258275.3:c.-187-6105G>T NP_001245204.1:n.-187-6105G>T
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