Canonical Allele Identifier: CA523804766
Gene: SLC44A5 HGNC NCBI

Linked Data

dbSNP Id: rs1389926133
gnomAD v2: 1-76106704-A-G
gnomAD v3: 1-75641019-A-G
gnomAD v4: 1-75641019-A-G
MyVariant Identifiers: chr1:g.76106704A>G (hg19) chr1:g.75641019A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75641019A>G , CM000663.2:g.75641019A>G GRCh38
NC_000001.10:g.76106704A>G , CM000663.1:g.76106704A>G GRCh37
NC_000001.9:g.75879292A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011540981.1:c.-74+68006T>C XP_011539283.1:n.-74+68006T>C
XM_011540982.1:c.-74+1354T>C XP_011539284.1:n.-74+1354T>C
XM_011540984.1:c.-70+1354T>C XP_011539286.1:n.-70+1354T>C
XM_017000609.1:c.-70+1354T>C XP_016856098.1:n.-70+1354T>C
XM_017000610.1:c.-70+1354T>C XP_016856099.1:n.-70+1354T>C
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