Canonical Allele Identifier: CA1139019634
Gene:

Linked Data

gnomAD v3: Y-8605990-C-T
gnomAD v4: Y-8605990-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605990C>T , CM000686.2:g.8605990C>T GRCh38
NC_000024.9:g.8474031C>T , CM000686.1:g.8474031C>T GRCh37
NC_000024.8:g.8534031C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624507.1:c.53-959G>A ENSP00000485522.1:n.53-959G>A
ENST00000624593.1:c.92+16862G>A ENSP00000485106.1:n.92+16862G>A
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