Canonical Allele Identifier: CA2544986405
Gene:

Linked Data

gnomAD v4: 5-159333119-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159333119C>A , CM000667.2:g.159333119C>A GRCh38
NC_000005.9:g.158760127C>A , CM000667.1:g.158760127C>A GRCh37
NC_000005.8:g.158692705C>A NCBI36
NG_009618.1:g.2355G>T , LRG_71:g.2355G>T

Transcript Alleles

HGVS Amino-acid change
NR_037889.1:n.745+116C>A
Search 100 bp 5'
Search 100 bp 3'