Canonical Allele Identifier: CA101489371
Gene:

Linked Data

dbSNP Id: rs997516775
gnomAD v2: 4-90577149-G-A
gnomAD v3: 4-89655998-G-A
gnomAD v4: 4-89655998-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655998G>A , CM000666.2:g.89655998G>A GRCh38
NC_000004.11:g.90577149G>A , CM000666.1:g.90577149G>A GRCh37
NC_000004.10:g.90796172G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28081G>A
XR_938987.1:n.688+28081G>A
XR_938988.1:n.554+28081G>A
XR_938990.1:n.299-35287G>A
XR_938991.1:n.434+28081G>A
XR_938994.1:n.779+28081G>A
XR_938995.1:n.613+28081G>A
XR_938986.2:n.459+28081G>A
XR_938987.2:n.748+28081G>A