Canonical Allele Identifier: CA942309859
Gene:

Linked Data

gnomAD v3: 11-112164850-T-G
gnomAD v4: 11-112164850-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164850T>G , CM000673.2:g.112164850T>G GRCh38
NC_000011.9:g.112035573T>G , CM000673.1:g.112035573T>G GRCh37
NC_000011.8:g.111540783T>G NCBI36
NG_028143.1:g.4268A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5569T>G
ENST00000531744.5:c.315-5569T>G ENSP00000456957.1:n.315-5569T>G
ENST00000532699.1:c.315-5569T>G ENSP00000456434.1:n.315-5569T>G
Search 100 bp 5'
Search 100 bp 3'