Canonical Allele Identifier: CA233590415
Gene: GOLT1B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.21501800C>A
GRCh37 chr12:g.21654734C>A
gnomAD v2:
12:21654734 C / A
gnomAD v3:
12:21501800 C / A
gnomAD v4:
chr12-21501800-C-A
Joint Max Group AF 0.01544014 (AFR)
Genomes Max Group AF 0.01549971 (AFR)
Exomes Max Group AF 0.01415402 (AFR)
ClinVar RCV:
RCV001583836
ClinVar Variation:
1214746
dbSNP:
186860602
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21501800C>A , CM000674.2:g.21501800C>A GRCh38
NC_000012.11:g.21654734C>A , CM000674.1:g.21654734C>A GRCh37
NC_000012.10:g.21546001C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229314.10:c.-124C>A MANE Select ENSP00000229314.4:n.-124C>A
ENST00000535593.5:n.20C>A
ENST00000542038.5:c.-224C>A ENSP00000446231.1:n.-224C>A
NM_016072.4:c.-124C>A NP_057156.1:n.-124C>A
XM_024448999.1:c.171C>A XP_024304767.1:p.Gly57=
NM_016072.5:c.-124C>A MANE Select NP_057156.1:n.-124C>A
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