Canonical Allele Identifier: CA1116952
Gene: S100A1 HGNC NCBI
S100A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153631798C>T , CM000663.2:g.153631798C>T GRCh38
NC_000001.10:g.153604274C>T , CM000663.1:g.153604274C>T GRCh37
NC_000001.9:g.151870898C>T NCBI36
NG_030030.1:g.2817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292169.6:c.242C>T (S100A1) MANE Select ENSP00000292169.2:p.Ala81Val
ENST00000292169.5:c.242C>T (S100A1) ENSP00000292169.1:p.Ala81Val
ENST00000368696.3:c.*266C>T (S100A1) ENSP00000357685.3:n.*266C>T
ENST00000368698.3:c.401C>T (S100A1) ENSP00000357687.3:p.Ala134Val
ENST00000469893.2:n.2380C>T (S100A1)
NM_001024210.1:c.-163+236G>A (S100A13) NP_001019381.1:n.-163+236G>A
NM_006271.1:c.242C>T (S100A1) NP_006262.1:p.Ala81Val
XM_011509862.1:c.-396+236G>A (S100A13) XP_011508164.1:n.-396+236G>A
XM_011509863.1:c.-363+236G>A (S100A13) XP_011508165.1:n.-363+236G>A
XM_011509862.3:c.-396+236G>A (S100A13) XP_011508164.1:n.-396+236G>A
XM_011509863.3:c.-363+236G>A (S100A13) XP_011508165.1:n.-363+236G>A
XM_017002034.2:c.-279+236G>A (S100A13) XP_016857523.1:n.-279+236G>A
XM_017002035.2:c.-280+236G>A (S100A13) XP_016857524.1:n.-280+236G>A
NM_001024210.2:c.-163+236G>A (S100A13) NP_001019381.1:n.-163+236G>A
NM_006271.2:c.242C>T (S100A1) MANE Select NP_006262.1:p.Ala81Val