Canonical Allele Identifier: CA1138669502
Gene:

Linked Data

gnomAD v3: Y-2800310-A-T
gnomAD v4: Y-2800310-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2800310A>T , CM000686.2:g.2800310A>T GRCh38
NC_000024.9:g.2668351A>T , CM000686.1:g.2668351A>T GRCh37
NC_000024.8:g.2728351A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+25571A>T
ENST00000681787.1:n.106+25571A>T
ENST00000681940.1:n.106+25571A>T
Search 100 bp 5'
Search 100 bp 3'