Canonical Allele Identifier: CA1522533349
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1252835T>G , CM000667.2:g.1252835T>G GRCh38
NC_000005.9:g.1252950T>G , CM000667.1:g.1252950T>G GRCh37
NC_000005.8:g.1305950T>G NCBI36
NG_009265.1:g.47213A>C , LRG_343:g.47213A>C

Transcript Alleles

HGVS Amino-acid Change
XR_925683.1:n.286+542T>G