Canonical Allele Identifier: CA3565310
Gene: DRD1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.175441837T>C
GRCh37 chr5:g.174868840T>C
gnomAD v2:
5:174868840 T / C
gnomAD v3:
5:175441837 T / C
gnomAD v4:
chr5-175441837-T-C
Joint Max Group AF 0.99220001 (EAS)
Genomes Max Group AF 0.98827347 (AFR)
Exomes Max Group AF 0.99170822 (EAS)
dbSNP:
155417
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.175441837T>C , CM000667.2:g.175441837T>C GRCh38
NC_000005.9:g.174868840T>C , CM000667.1:g.174868840T>C GRCh37
NC_000005.8:g.174801446T>C NCBI36
NG_011802.1:g.7324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393752.3:c.1263A>G MANE Select ENSP00000377353.1:p.Ser421=
ENST00000393752.2:c.1263A>G ENSP00000377353.1:p.Ser421=
NM_000794.3:c.1263A>G NP_000785.1:p.Ser421=
NM_000794.4:c.1263A>G NP_000785.1:p.Ser421=
NM_000794.5:c.1263A>G MANE Select NP_000785.1:p.Ser421=
Search 100 bp 5'
Search 100 bp 3'