Canonical Allele Identifier: CA1178344
Gene: CD1A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158255035C>T
GRCh37 chr1:g.158224825C>T
gnomAD v2:
1:158224825 C / T
gnomAD v3:
1:158255035 C / T
gnomAD v4:
chr1-158255035-C-T
Joint Max Group AF 0.67697122 (AFR)
Genomes Max Group AF 0.66823952 (AFR)
Exomes Max Group AF 0.68336281 (AFR)
dbSNP:
411089
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158255035C>T , CM000663.2:g.158255035C>T GRCh38
NC_000001.10:g.158224825C>T , CM000663.1:g.158224825C>T GRCh37
NC_000001.9:g.156491449C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289429.6:c.59-49C>T MANE Select ENSP00000289429.5:n.59-49C>T
ENST00000289429.5:c.59-49C>T ENSP00000289429.5:n.59-49C>T
NM_001763.2:c.59-49C>T NP_001754.2:n.59-49C>T
XM_011510117.1:c.26-49C>T XP_011508419.1:n.26-49C>T
XM_011510118.1:c.59-49C>T XP_011508420.1:n.59-49C>T
NM_001320652.1:c.26-49C>T NP_001307581.1:n.26-49C>T
XM_024450738.1:c.-410-49C>T XP_024306506.1:n.-410-49C>T
NM_001763.3:c.59-49C>T MANE Select NP_001754.2:n.59-49C>T
NM_001320652.2:c.26-49C>T NP_001307581.1:n.26-49C>T
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