Canonical Allele Identifier: CA397345988

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002548C>G , CM000679.2:g.5002548C>G GRCh38
NC_000017.10:g.4905843C>G , CM000679.1:g.4905843C>G GRCh37
NC_000017.9:g.4846567C>G NCBI36
NG_034137.1:g.9601C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.514C>G (KIF1C) MANE Select ENSP00000320821.5:p.Pro172Ala
ENST00000320785.9:c.514C>G (KIF1C) ENSP00000320821.5:p.Pro172Ala
NM_006612.5:c.514C>G (KIF1C) NP_006603.2:p.Pro172Ala
XM_005256424.1:c.514C>G (KIF1C) XP_005256481.1:p.Pro172Ala
XM_005256424.2:c.514C>G (KIF1C) XP_005256481.1:p.Pro172Ala
XM_024450745.1:c.-39+3534G>C (INCA1) XP_024306513.1:n.-39+3534G>C
NM_006612.6:c.514C>G (KIF1C) MANE Select NP_006603.2:p.Pro172Ala