Canonical Allele Identifier: CA2501035004
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056871A>T , CM000665.2:g.53056871A>T GRCh38
NC_000003.11:g.53090887A>T , CM000665.1:g.53090887A>T GRCh37
NC_000003.10:g.53065927A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9632T>A
ENST00000607283.5:c.465-13617T>A
ENST00000607495.5:c.447+20817T>A
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