Canonical Allele Identifier: CA9613894
Gene: SIGLEC12 HGNC NCBI
COSMIC:
COSM4000848 (not active)
MyVariant.info:
GRCh38 chr19:g.51501649G>A
GRCh37 chr19:g.52004903G>A
gnomAD v2:
19:52004903 G / A
gnomAD v3:
19:51501649 G / A
gnomAD v4:
chr19-51501649-G-A
Joint Max Group AF 0.3330136 (AFR)
Genomes Max Group AF 0.32848124 (AFR)
Exomes Max Group AF 0.33542058 (AFR)
dbSNP:
16982743
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51501649G>A , CM000681.2:g.51501649G>A GRCh38
NC_000019.9:g.52004903G>A , CM000681.1:g.52004903G>A GRCh37
NC_000019.8:g.56696715G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291707.8:c.85C>T MANE Select ENSP00000291707.3:p.Gln29Ter
ENST00000291707.7:c.85C>T ENSP00000291707.3:p.Gln29Ter
ENST00000596742.1:c.85C>T ENSP00000469791.1:p.Gln29Ter
NM_053003.3:c.85C>T NP_443729.1:p.Gln29Ter
XM_011527442.1:c.85C>T XP_011525744.1:p.Gln29Ter
XM_011527442.2:c.85C>T XP_011525744.1:p.Gln29Ter
NM_053003.4:c.85C>T MANE Select NP_443729.1:p.Gln29Ter
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