Canonical Allele Identifier: CA912099
Community Standard Title: NM_001130058.2(SLC44A5):c.2048-2796T>C
Gene: SLC44A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75206629A>G , CM000663.2:g.75206629A>G GRCh38
NC_000001.10:g.75672314A>G , CM000663.1:g.75672314A>G GRCh37
NC_000001.9:g.75444902A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130058.2:c.2048-2796T>C MANE Select NP_001123530.1:n.2048-2796T>C
ENST00000370859.8:c.2048-2796T>C MANE Select ENSP00000359896.3:n.2048-2796T>C
NM_001130058.1:c.2048-2796T>C NP_001123530.1:n.2048-2796T>C
NM_001320283.1:c.2120T>C NP_001307212.1:p.Val707Ala
NM_001320283.2:c.2120T>C NP_001307212.1:p.Val707Ala
NM_001320283.3:c.2120T>C NP_001307212.1:p.Val707Ala
NM_001320285.1:c.1922-2796T>C NP_001307214.1:n.1922-2796T>C
NM_001320285.2:c.1922-2796T>C NP_001307214.1:n.1922-2796T>C
NM_001320287.1:c.1922-2796T>C NP_001307216.1:n.1922-2796T>C
NM_001320287.2:c.1922-2796T>C NP_001307216.1:n.1922-2796T>C
NM_152697.4:c.2138T>C NP_689910.2:p.Val713Ala
NM_152697.5:c.2138T>C NP_689910.2:p.Val713Ala
NM_152697.6:c.2138T>C NP_689910.2:p.Val713Ala
ENST00000370855.5:c.2138T>C ENSP00000359892.5:p.Val713Ala
ENST00000370859.7:c.2048-2796T>C ENSP00000359896.3:n.2048-2796T>C
XM_006710445.2:c.2012T>C XP_006710508.1:p.Val671Ala
XM_006710445.3:c.2012T>C XP_006710508.1:p.Val671Ala
XM_011540981.1:c.2201T>C XP_011539283.1:p.Val734Ala
XM_011540982.1:c.2201T>C XP_011539284.1:p.Val734Ala
XM_011540983.1:c.2147T>C XP_011539285.1:p.Val716Ala
XM_011540984.1:c.2138T>C XP_011539286.1:p.Val713Ala
XM_011540985.1:c.2120T>C XP_011539287.1:p.Val707Ala
XM_011540986.1:c.2012T>C XP_011539288.1:p.Val671Ala
XM_011540987.1:c.2012T>C XP_011539289.1:p.Val671Ala
XM_011540987.2:c.2012T>C XP_011539289.1:p.Val671Ala
XM_011540988.1:c.2012T>C XP_011539290.1:p.Val671Ala
XM_011540989.1:c.1922-2796T>C XP_011539291.1:n.1922-2796T>C
XM_011540990.1:c.1922-2796T>C XP_011539292.1:n.1922-2796T>C
XM_017000607.1:c.2159T>C XP_016856096.1:p.Val720Ala
XM_017000608.1:c.2069-2796T>C XP_016856097.1:n.2069-2796T>C
XM_017000609.1:c.2138T>C XP_016856098.1:p.Val713Ala
XM_017000610.1:c.2138T>C XP_016856099.1:p.Val713Ala
XM_017000611.1:c.2138T>C XP_016856100.1:p.Val713Ala