Canonical Allele Identifier: CA101489353
Gene:

Linked Data

dbSNP Id: rs565650893
gnomAD v3: 4-89655851-A-G
gnomAD v4: 4-89655851-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655851A>G , CM000666.2:g.89655851A>G GRCh38
NC_000004.11:g.90577002A>G , CM000666.1:g.90577002A>G GRCh37
NC_000004.10:g.90796025A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27934A>G
XR_938987.1:n.688+27934A>G
XR_938988.1:n.554+27934A>G
XR_938990.1:n.299-35434A>G
XR_938991.1:n.434+27934A>G
XR_938994.1:n.779+27934A>G
XR_938995.1:n.613+27934A>G
XR_938986.2:n.459+27934A>G
XR_938987.2:n.748+27934A>G