Canonical Allele Identifier: CA2361132856
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs1010442466
gnomAD v4: 20-34280206-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34280206C>A , CM000682.2:g.34280206C>A GRCh38
NC_000020.10:g.32868012C>A , CM000682.1:g.32868012C>A GRCh37
NC_000020.9:g.32331673C>A NCBI36
NG_012630.1:g.36597G>T
NG_012630.2:g.36597G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011528657.1:c.*7+821G>T XP_011526959.1:n.*7+821G>T
XM_011528658.1:c.*7+821G>T XP_011526960.1:n.*7+821G>T
XM_011528657.2:c.*7+821G>T XP_011526959.2:n.*7+821G>T
XM_011528658.3:c.*7+821G>T XP_011526960.2:n.*7+821G>T
XM_017027709.2:c.*7+821G>T XP_016883198.1:n.*7+821G>T
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