Canonical Allele Identifier: CA2602769537
Gene:

Linked Data

gnomAD v3: 11-112164776-G-T
gnomAD v4: 11-112164776-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164776G>T , CM000673.2:g.112164776G>T GRCh38
NC_000011.9:g.112035499G>T , CM000673.1:g.112035499G>T GRCh37
NC_000011.8:g.111540709G>T NCBI36
NG_028143.1:g.4342C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5643G>T
ENST00000531744.5:c.315-5643G>T ENSP00000456957.1:n.315-5643G>T
ENST00000532699.1:c.315-5643G>T ENSP00000456434.1:n.315-5643G>T
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