Canonical Allele Identifier: CA16043186
Gene: ALG12 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.49913603C>A
GRCh37 chr22:g.50307251C>A
gnomAD v2:
22:50307251 C / A
gnomAD v4:
chr22-49913603-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000414118
ClinVar Variation:
372630
dbSNP:
1057517895
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913603C>A , CM000684.2:g.49913603C>A GRCh38
NC_000022.10:g.50307251C>A , CM000684.1:g.50307251C>A GRCh37
NC_000022.9:g.48693255C>A NCBI36
NG_008927.1:g.9856G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.162+1G>T MANE Select ENSP00000333813.5:n.162+1G>T
ENST00000330817.10:c.162+1G>T ENSP00000333813.5:n.162+1G>T
NM_024105.3:c.162+1G>T NP_077010.1:n.162+1G>T
XM_011530369.1:c.162+1G>T XP_011528671.1:n.162+1G>T
XM_011530370.1:c.162+1G>T XP_011528672.1:n.162+1G>T
XM_011530371.1:c.162+1G>T XP_011528673.1:n.162+1G>T
XM_011530371.2:c.162+1G>T XP_011528673.1:n.162+1G>T
XM_017028936.1:c.162+1G>T XP_016884425.1:n.162+1G>T
XM_017028937.1:c.162+1G>T XP_016884426.1:n.162+1G>T
NM_024105.4:c.162+1G>T MANE Select NP_077010.1:n.162+1G>T
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