Canonical Allele Identifier: CA14935045
Gene:

Linked Data

dbSNP Id: rs384262

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.21658483G>A , CM000684.2:g.21658483G>A GRCh38
NC_000022.10:g.22012772G>A , CM000684.1:g.22012772G>A GRCh37
NC_000022.9:g.20342772G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000641967.1:n.286+94G>A
ENST00000498589.1:n.539+21G>A
XM_017029165.1:n.674+21G>A XP_016884654.1:p.=
NR_169729.1:n.1295G>A
NR_169730.1:n.1198G>A
NR_169731.1:n.432-2354G>A
NR_169732.1:n.328+21G>A
NR_169733.1:n.386+21G>A
NR_169734.1:n.410+21G>A