Canonical Allele Identifier: CA2597569097

Gene:

Linked Data

• dbSNP Id: rs2107006503
• gnomAD v3: 3-53057200-C-T
• gnomAD v4: 3-53057200-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057200C>T , CM000665.2:g.53057200C>T	GRCh38
NC_000003.11:g.53091216C>T , CM000665.1:g.53091216C>T	GRCh37
NC_000003.10:g.53066256C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9961G>A
ENST00000607283.5:c.465-13946G>A
ENST00000607495.5:c.447+20488G>A