Canonical Allele Identifier: CA2589255015
Gene:

Linked Data

gnomAD v3: Y-2791208-A-C
gnomAD v4: Y-2791208-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2791208A>C , CM000686.2:g.2791208A>C GRCh38
NC_000024.9:g.2659249A>C , CM000686.1:g.2659249A>C GRCh37
NC_000024.8:g.2719249A>C NCBI36
NG_011751.1:g.1544T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+16469A>C
ENST00000681787.1:n.106+16469A>C
ENST00000681940.1:n.106+16469A>C
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