Canonical Allele Identifier: CA2598031378
Gene:

Linked Data

gnomAD v3: 4-54072296-C-T
gnomAD v4: 4-54072296-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072296C>T , CM000666.2:g.54072296C>T GRCh38
NC_000004.11:g.54938463C>T , CM000666.1:g.54938463C>T GRCh37
NC_000004.10:g.54633220C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202629C>T ENSP00000423325.1:n.1018-202629C>T
Search 100 bp 5'
Search 100 bp 3'