Canonical Allele Identifier: CA24590818
Gene: SLC44A5 HGNC NCBI

Linked Data

dbSNP Id: rs992938994
gnomAD v2: 1-76106774-C-A
gnomAD v3: 1-75641089-C-A
gnomAD v4: 1-75641089-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75641089C>A , CM000663.2:g.75641089C>A GRCh38
NC_000001.10:g.76106774C>A , CM000663.1:g.76106774C>A GRCh37
NC_000001.9:g.75879362C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011540981.1:c.-74+67936G>T XP_011539283.1:n.-74+67936G>T
XM_011540982.1:c.-74+1284G>T XP_011539284.1:n.-74+1284G>T
XM_011540984.1:c.-70+1284G>T XP_011539286.1:n.-70+1284G>T
XM_017000609.1:c.-70+1284G>T XP_016856098.1:n.-70+1284G>T
XM_017000610.1:c.-70+1284G>T XP_016856099.1:n.-70+1284G>T