Canonical Allele Identifier: CA10836530
Gene:

Linked Data

dbSNP Id: rs12131057
gnomAD v2: 1-38624129-G-A
gnomAD v3: 1-38158457-G-A
gnomAD v4: 1-38158457-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.38158457G>A , CM000663.2:g.38158457G>A GRCh38
NC_000001.10:g.38624129G>A , CM000663.1:g.38624129G>A GRCh37
NC_000001.9:g.38396716G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947202.1:n.45-3236G>A
XR_947203.1:n.61+16743G>A
XR_947204.1:n.45-3236G>A
XR_947205.1:n.45-3236G>A
XR_001737984.1:n.45-3236G>A
XR_001737985.1:n.61+16743G>A
XR_001737986.1:n.45-3236G>A
XR_001737987.1:n.45-3236G>A
XR_002958294.1:n.45-3236G>A
XR_947205.2:n.45-3236G>A