Canonical Allele Identifier: CA553236764
Gene:

Linked Data

dbSNP Id: rs1374298938
gnomAD v2: 4-90577148-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655997G>A , CM000666.2:g.89655997G>A GRCh38
NC_000004.11:g.90577148G>A , CM000666.1:g.90577148G>A GRCh37
NC_000004.10:g.90796171G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28080G>A
XR_938987.1:n.688+28080G>A
XR_938988.1:n.554+28080G>A
XR_938990.1:n.299-35288G>A
XR_938991.1:n.434+28080G>A
XR_938994.1:n.779+28080G>A
XR_938995.1:n.613+28080G>A
XR_938986.2:n.459+28080G>A
XR_938987.2:n.748+28080G>A