Canonical Allele Identifier: CA1139019628
Gene:

Linked Data

gnomAD v3: Y-8605967-G-A
gnomAD v4: Y-8605967-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605967G>A , CM000686.2:g.8605967G>A GRCh38
NC_000024.9:g.8474008G>A , CM000686.1:g.8474008G>A GRCh37
NC_000024.8:g.8534008G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.53-936C>T ENSP00000485522.1:n.53-936C>T
ENST00000624593.1:c.92+16885C>T ENSP00000485106.1:n.92+16885C>T
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