Canonical Allele Identifier: CA127231919

Gene:

Linked Data

• dbSNP Id: rs977202252
• gnomAD v2: 5-125338379-T-A
• gnomAD v3: 5-126002686-T-A
• gnomAD v4: 5-126002686-T-A
• MyVariant Identifiers: chr5:g.125338379T>A (hg19) ; chr5:g.126002686T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002686T>A , CM000667.2:g.126002686T>A	GRCh38
NC_000005.9:g.125338379T>A , CM000667.1:g.125338379T>A	GRCh37
NC_000005.8:g.125366278T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3654A>T
XR_948738.1:n.497+5854A>T