Canonical Allele Identifier: CA101489367
Gene:

Linked Data

dbSNP Id: rs544432438
gnomAD v2: 4-90577097-T-A
gnomAD v3: 4-89655946-T-A
gnomAD v4: 4-89655946-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655946T>A , CM000666.2:g.89655946T>A GRCh38
NC_000004.11:g.90577097T>A , CM000666.1:g.90577097T>A GRCh37
NC_000004.10:g.90796120T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28029T>A
XR_938987.1:n.688+28029T>A
XR_938988.1:n.554+28029T>A
XR_938990.1:n.299-35339T>A
XR_938991.1:n.434+28029T>A
XR_938994.1:n.779+28029T>A
XR_938995.1:n.613+28029T>A
XR_938986.2:n.459+28029T>A
XR_938987.2:n.748+28029T>A