Canonical Allele Identifier: CA397345990

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002549C>A , CM000679.2:g.5002549C>A GRCh38
NC_000017.10:g.4905844C>A , CM000679.1:g.4905844C>A GRCh37
NC_000017.9:g.4846568C>A NCBI36
NG_034137.1:g.9602C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.515C>A (KIF1C) MANE Select ENSP00000320821.5:p.Pro172His
ENST00000320785.9:c.515C>A (KIF1C) ENSP00000320821.5:p.Pro172His
NM_006612.5:c.515C>A (KIF1C) NP_006603.2:p.Pro172His
XM_005256424.1:c.515C>A (KIF1C) XP_005256481.1:p.Pro172His
XM_005256424.2:c.515C>A (KIF1C) XP_005256481.1:p.Pro172His
XM_024450745.1:c.-39+3533G>T (INCA1) XP_024306513.1:n.-39+3533G>T
NM_006612.6:c.515C>A (KIF1C) MANE Select NP_006603.2:p.Pro172His