Canonical Allele Identifier: CA2604010195

Gene:

Linked Data

• gnomAD v3: 2-120332330-A-T
• gnomAD v4: 2-120332330-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332330A>T , CM000664.2:g.120332330A>T	GRCh38
NC_000002.11:g.121089906A>T , CM000664.1:g.121089906A>T	GRCh37
NC_000002.10:g.120806376A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512307.1:c.141+3524A>T	XP_011510609.1:n.141+3524A>T