Canonical Allele Identifier: CA553236583
Gene:

Linked Data

dbSNP Id: rs1266986535
gnomAD v2: 4-90576751-G-A
gnomAD v3: 4-89655600-G-A
gnomAD v4: 4-89655600-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655600G>A , CM000666.2:g.89655600G>A GRCh38
NC_000004.11:g.90576751G>A , CM000666.1:g.90576751G>A GRCh37
NC_000004.10:g.90795774G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27683G>A
XR_938987.1:n.688+27683G>A
XR_938988.1:n.554+27683G>A
XR_938990.1:n.299-35685G>A
XR_938991.1:n.434+27683G>A
XR_938994.1:n.779+27683G>A
XR_938995.1:n.613+27683G>A
XR_938986.2:n.459+27683G>A
XR_938987.2:n.748+27683G>A