Canonical Allele Identifier: CA12242366
Community Standard Title: NM_006416.5(SLC35A1):c.17-148A>G
Gene: SLC35A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87477214A>G , CM000668.2:g.87477214A>G GRCh38
NC_000006.11:g.88186932A>G , CM000668.1:g.88186932A>G GRCh37
NC_000006.10:g.88243651A>G NCBI36
NG_016207.1:g.9290A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006416.5:c.17-148A>G MANE Select NP_006407.1:n.17-148A>G
ENST00000369552.9:c.17-148A>G MANE Select ENSP00000358565.4:n.17-148A>G
NM_001168398.1:c.17-148A>G NP_001161870.1:n.17-148A>G
NM_001168398.2:c.17-148A>G NP_001161870.1:n.17-148A>G
NM_006416.4:c.17-148A>G NP_006407.1:n.17-148A>G
ENST00000369552.8:c.17-148A>G ENSP00000358565.4:n.17-148A>G
ENST00000369556.7:c.17-148A>G ENSP00000358569.3:n.17-148A>G
ENST00000369557.9:c.17-148A>G ENSP00000358570.5:n.17-148A>G
ENST00000464978.5:n.92-148A>G
ENST00000506888.5:n.556-148A>G
ENST00000507897.5:c.*61-148A>G ENSP00000426769.1:n.*61-148A>G
ENST00000513191.1:n.510-148A>G
ENST00000544441.4:c.17-148A>G ENSP00000438603.2:n.17-148A>G