Canonical Allele Identifier: CA1062621886
Gene:

Linked Data

gnomAD v3: 4-54072300-T-A
gnomAD v4: 4-54072300-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072300T>A , CM000666.2:g.54072300T>A GRCh38
NC_000004.11:g.54938467T>A , CM000666.1:g.54938467T>A GRCh37
NC_000004.10:g.54633224T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202625T>A ENSP00000423325.1:n.1018-202625T>A
Search 100 bp 5'
Search 100 bp 3'