Canonical Allele Identifier: CA1062621865
Gene:

Linked Data

gnomAD v3: 4-54072294-T-C
gnomAD v4: 4-54072294-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072294T>C , CM000666.2:g.54072294T>C GRCh38
NC_000004.11:g.54938461T>C , CM000666.1:g.54938461T>C GRCh37
NC_000004.10:g.54633218T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202631T>C ENSP00000423325.1:n.1018-202631T>C
Search 100 bp 5'
Search 100 bp 3'