Canonical Allele Identifier: CA3565490
Gene: DRD1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.175443147C>T
GRCh37 chr5:g.174870150C>T
gnomAD v2:
5:174870150 C / T
gnomAD v3:
5:175443147 C / T
gnomAD v4:
chr5-175443147-C-T
Joint Max Group AF 0.88765335 (AFR)
Genomes Max Group AF 0.8810564 (AFR)
Exomes Max Group AF 0.89072046 (AFR)
ClinVar RCV:
RCV000608357
ClinVar Variation:
511081
dbSNP:
4532
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.175443147C>T , CM000667.2:g.175443147C>T GRCh38
NC_000005.9:g.174870150C>T , CM000667.1:g.174870150C>T GRCh37
NC_000005.8:g.174802756C>T NCBI36
NG_011802.1:g.6014G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393752.3:c.-48G>A MANE Select ENSP00000377353.1:n.-48G>A
ENST00000393752.2:c.-48G>A ENSP00000377353.1:n.-48G>A
NM_000794.3:c.-48G>A NP_000785.1:n.-48G>A
NM_000794.4:c.-48G>A NP_000785.1:n.-48G>A
NM_000794.5:c.-48G>A MANE Select NP_000785.1:n.-48G>A
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