Canonical Allele Identifier: CA1116867
Community Standard Title: NM_006271.2(S100A1):c.60G>A (p.Ser20=)
Gene: S100A1 HGNC NCBI
S100A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153630581G>A , CM000663.2:g.153630581G>A GRCh38
NC_000001.10:g.153603057G>A , CM000663.1:g.153603057G>A GRCh37
NC_000001.9:g.151869681G>A NCBI36
NG_030030.1:g.1600G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006271.2:c.60G>A (S100A1) MANE Select NP_006262.1:p.Ser20=
ENST00000292169.6:c.60G>A (S100A1) MANE Select ENSP00000292169.2:p.Ser20=
NM_001024210.1:c.-62+430C>T (S100A13) NP_001019381.1:n.-62+430C>T
NM_001024210.2:c.-62+430C>T (S100A13) NP_001019381.1:n.-62+430C>T
NM_006271.1:c.60G>A (S100A1) NP_006262.1:p.Ser20=
ENST00000292169.5:c.60G>A (S100A1) ENSP00000292169.1:p.Ser20=
ENST00000368696.3:c.60G>A (S100A1) ENSP00000357685.3:p.Ser20=
ENST00000368698.3:c.219G>A (S100A1) ENSP00000357687.3:p.Ser73=
ENST00000436839.1:c.60G>A (S100A1) ENSP00000389708.1:p.Ser20=
ENST00000469893.2:n.2198G>A (S100A1)
ENST00000491177.1:n.426C>T (S100A13)
XM_005245434.3:c.-295+430C>T (S100A13) XP_005245491.1:n.-295+430C>T
XM_011509862.1:c.-295+430C>T (S100A13) XP_011508164.1:n.-295+430C>T
XM_011509862.3:c.-295+430C>T (S100A13) XP_011508164.1:n.-295+430C>T
XM_011509863.1:c.-295+430C>T (S100A13) XP_011508165.1:n.-295+430C>T
XM_011509863.3:c.-295+430C>T (S100A13) XP_011508165.1:n.-295+430C>T
XM_011509864.1:c.-426C>T (S100A13) XP_011508166.1:n.-426C>T
XM_017002034.2:c.-178+430C>T (S100A13) XP_016857523.1:n.-178+430C>T
XM_017002035.2:c.-179+430C>T (S100A13) XP_016857524.1:n.-179+430C>T