Canonical Allele Identifier: CA2589255011

Gene:

Linked Data

• gnomAD v3: Y-2789282-G-A
• gnomAD v4: Y-2789282-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2789282G>A , CM000686.2:g.2789282G>A	GRCh38
NC_000024.9:g.2657323G>A , CM000686.1:g.2657323G>A	GRCh37
NC_000024.8:g.2717323G>A	NCBI36
NG_011751.1:g.3470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+14543G>A
ENST00000680285.1:n.320-467G>A
ENST00000681787.1:n.106+14543G>A
ENST00000681940.1:n.106+14543G>A