Canonical Allele Identifier: CA10676827
Gene: SLC44A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75723803C>G , CM000663.2:g.75723803C>G GRCh38
NC_000001.10:g.76189488C>G , CM000663.1:g.76189488C>G GRCh37
NC_000001.9:g.75962076C>G NCBI36
NG_007045.2:g.4446C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433521.2:n.71-15G>C
ENST00000648424.1:n.108+139G>C
XM_011540981.1:c.-1060G>C XP_011539283.1:n.-1060G>C
XM_011540982.1:c.-1180G>C XP_011539284.1:n.-1180G>C
XM_011540984.1:c.-1176G>C XP_011539286.1:n.-1176G>C
XM_017000609.1:c.-1030G>C XP_016856098.1:n.-1030G>C
XM_017000610.1:c.-247+139G>C XP_016856099.1:n.-247+139G>C
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