Canonical Allele Identifier: CA397345997

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002552T>C , CM000679.2:g.5002552T>C GRCh38
NC_000017.10:g.4905847T>C , CM000679.1:g.4905847T>C GRCh37
NC_000017.9:g.4846571T>C NCBI36
NG_034137.1:g.9605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.518T>C (KIF1C) MANE Select ENSP00000320821.5:p.Ile173Thr
ENST00000320785.9:c.518T>C (KIF1C) ENSP00000320821.5:p.Ile173Thr
NM_006612.5:c.518T>C (KIF1C) NP_006603.2:p.Ile173Thr
XM_005256424.1:c.518T>C (KIF1C) XP_005256481.1:p.Ile173Thr
XM_005256424.2:c.518T>C (KIF1C) XP_005256481.1:p.Ile173Thr
XM_024450745.1:c.-39+3530A>G (INCA1) XP_024306513.1:n.-39+3530A>G
NM_006612.6:c.518T>C (KIF1C) MANE Select NP_006603.2:p.Ile173Thr