Canonical Allele Identifier: CA397346057

Linked Data

dbSNP Id: rs1974623326
gnomAD v4: 17-5002582-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002582A>G , CM000679.2:g.5002582A>G GRCh38
NC_000017.10:g.4905877A>G , CM000679.1:g.4905877A>G GRCh37
NC_000017.9:g.4846601A>G NCBI36
NG_034137.1:g.9635A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.548A>G (KIF1C) MANE Select ENSP00000320821.5:p.Lys183Arg
ENST00000320785.9:c.548A>G (KIF1C) ENSP00000320821.5:p.Lys183Arg
NM_006612.5:c.548A>G (KIF1C) NP_006603.2:p.Lys183Arg
XM_005256424.1:c.548A>G (KIF1C) XP_005256481.1:p.Lys183Arg
XM_005256424.2:c.548A>G (KIF1C) XP_005256481.1:p.Lys183Arg
XM_024450745.1:c.-39+3500T>C (INCA1) XP_024306513.1:n.-39+3500T>C
NM_006612.6:c.548A>G (KIF1C) MANE Select NP_006603.2:p.Lys183Arg