Canonical Allele Identifier: CA1066140500

Gene:

Linked Data

• gnomAD v3: 4-102499874-G-T
• gnomAD v4: 4-102499874-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499874G>T , CM000666.2:g.102499874G>T	GRCh38
NC_000004.11:g.103421031G>T , CM000666.1:g.103421031G>T	GRCh37
NC_000004.10:g.103640063G>T	NCBI36
NG_050628.1:g.3546G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1375C>A	XP_011530769.1:n.643+1375C>A
NR_136202.1:n.48+2565C>A