Canonical Allele Identifier: CA12087348

Gene:

Linked Data

• dbSNP Id: rs4143832
• gnomAD v2: 5-131862977-T-G
• gnomAD v3: 5-132527285-T-G
• gnomAD v4: 5-132527285-T-G
• MyVariant Identifiers: chr5:g.131862977T>G (hg19) ; chr5:g.132527285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132527285T>G , CM000667.2:g.132527285T>G	GRCh38
NC_000005.9:g.131862977T>G , CM000667.1:g.131862977T>G	GRCh37
NC_000005.8:g.131890876T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-31999T>G	ENSP00000492349.2:n.-168-31999T>G
ENST00000638504.1:n.207-31999T>G
ENST00000638568.2:c.-310-29047T>G	ENSP00000491158.2:n.-310-29047T>G
ENST00000639899.1:n.290-31999T>G
ENST00000640655.2:c.-168-31999T>G	ENSP00000491596.2:n.-168-31999T>G