ClinGen Allele Registry
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Canonical Allele Identifier:
CA324676244
Gene: CYP2D6
HGNC
NCBI
Linked Data
dbSNP:
77185887
gnomAD v3:
22:42131309 A / T
gnomAD v4:
chr22-42131309-A-T
Joint Max Group AF
0.00003295 (AFR)
Genomes Max Group AF
0.00003295 (AFR)
MyVariant.info:
GRCh38
chr22:g.42131309A>T
GRCh37
chr22:g.42527311A>T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.42131309A>T , CM000684.2:g.42131309A>T
GRCh38
NC_000022.10:g.42527311A>T , CM000684.1:g.42527311A>T
GRCh37
NC_000022.9:g.40857255A>T
NCBI36
NG_008376.3:g.3683T>A
NG_008376.4:g.4502T>A
Transcript Alleles
HGVS
Amino-acid Change
XM_011529966.1:c.-518T>A
XP_011528268.1:n.-518T>A
XM_011529967.1:c.-518T>A
XP_011528269.1:n.-518T>A
XM_011529968.1:c.-518T>A
XP_011528270.1:n.-518T>A
XM_011529969.1:c.25T>A
XP_011528271.1:p.Ser9Thr
XM_011529970.1:c.-518T>A
XP_011528272.1:n.-518T>A
XM_011529971.1:c.25T>A
XP_011528273.1:p.Ser9Thr
XM_011529972.1:c.-518T>A
XP_011528274.1:n.-518T>A
XR_430455.2:n.328+621A>T
XR_002958749.1:n.275+621A>T
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