Allele Registry

Canonical Allele Identifier: CA16231168

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.75006833A>G

GRCh37 chr5:g.74302658A>G

Linked Data - Sequence & Population

gnomAD v2:

5:74302658 A / G

gnomAD v3:

5:75006833 A / G

gnomAD v4:

chr5-75006833-A-G

Joint Max Group AF 0.67847997 (AFR)

Genomes Max Group AF 0.6787141 (AFR)

Exomes Max Group AF 0.66200981 (AFR)

Linked Data - NCBI & NCI

dbSNP:

4555772

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75006833A>G , CM000667.2:g.75006833A>G	GRCh38
NC_000005.9:g.74302658A>G , CM000667.1:g.74302658A>G	GRCh37
NC_000005.8:g.74338414A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509755.1:n.180T>C

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