Canonical Allele Identifier: CA1069061858
Gene:

Linked Data

gnomAD v3: 4-144601477-T-A
gnomAD v4: 4-144601477-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601477T>A , CM000666.2:g.144601477T>A GRCh38
NC_000004.11:g.145522629T>A , CM000666.1:g.145522629T>A GRCh37
NC_000004.10:g.145742079T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185499A>T ENSP00000497507.1:n.328-185499A>T
Search 100 bp 5'
Search 100 bp 3'