Canonical Allele Identifier: CA24590798
Gene: SLC44A5 HGNC NCBI

Linked Data

dbSNP Id: rs759730852
gnomAD v2: 1-76106761-C-T
gnomAD v3: 1-75641076-C-T
gnomAD v4: 1-75641076-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75641076C>T , CM000663.2:g.75641076C>T GRCh38
NC_000001.10:g.76106761C>T , CM000663.1:g.76106761C>T GRCh37
NC_000001.9:g.75879349C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011540981.1:c.-74+67949G>A XP_011539283.1:n.-74+67949G>A
XM_011540982.1:c.-74+1297G>A XP_011539284.1:n.-74+1297G>A
XM_011540984.1:c.-70+1297G>A XP_011539286.1:n.-70+1297G>A
XM_017000609.1:c.-70+1297G>A XP_016856098.1:n.-70+1297G>A
XM_017000610.1:c.-70+1297G>A XP_016856099.1:n.-70+1297G>A