Canonical Allele Identifier: CA1139019627
Gene:

Linked Data

gnomAD v3: Y-8605960-C-T
gnomAD v4: Y-8605960-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605960C>T , CM000686.2:g.8605960C>T GRCh38
NC_000024.9:g.8474001C>T , CM000686.1:g.8474001C>T GRCh37
NC_000024.8:g.8534001C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.53-929G>A ENSP00000485522.1:n.53-929G>A
ENST00000624593.1:c.92+16892G>A ENSP00000485106.1:n.92+16892G>A
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