Canonical Allele Identifier: CA101489352
Gene:

Linked Data

dbSNP Id: rs754688287
gnomAD v3: 4-89655836-G-A
gnomAD v4: 4-89655836-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655836G>A , CM000666.2:g.89655836G>A GRCh38
NC_000004.11:g.90576987G>A , CM000666.1:g.90576987G>A GRCh37
NC_000004.10:g.90796010G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27919G>A
XR_938987.1:n.688+27919G>A
XR_938988.1:n.554+27919G>A
XR_938990.1:n.299-35449G>A
XR_938991.1:n.434+27919G>A
XR_938994.1:n.779+27919G>A
XR_938995.1:n.613+27919G>A
XR_938986.2:n.459+27919G>A
XR_938987.2:n.748+27919G>A