Canonical Allele Identifier: CA30692529
Community Standard Title: NM_006271.2(S100A1):c.279C>G (p.Asn93Lys)
Gene: S100A1 HGNC NCBI
S100A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153631835C>G , CM000663.2:g.153631835C>G GRCh38
NC_000001.10:g.153604311C>G , CM000663.1:g.153604311C>G GRCh37
NC_000001.9:g.151870935C>G NCBI36
NG_030030.1:g.2854C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006271.2:c.279C>G (S100A1) MANE Select NP_006262.1:p.Asn93Lys
ENST00000292169.6:c.279C>G (S100A1) MANE Select ENSP00000292169.2:p.Asn93Lys
NM_001024210.1:c.-163+199G>C (S100A13) NP_001019381.1:n.-163+199G>C
NM_001024210.2:c.-163+199G>C (S100A13) NP_001019381.1:n.-163+199G>C
NM_006271.1:c.279C>G (S100A1) NP_006262.1:p.Asn93Lys
ENST00000292169.5:c.279C>G (S100A1) ENSP00000292169.1:p.Asn93Lys
ENST00000368698.3:c.438C>G (S100A1) ENSP00000357687.3:p.Asn146Lys
ENST00000469893.2:n.2417C>G (S100A1)
XM_011509862.1:c.-396+199G>C (S100A13) XP_011508164.1:n.-396+199G>C
XM_011509862.3:c.-396+199G>C (S100A13) XP_011508164.1:n.-396+199G>C
XM_011509863.1:c.-363+199G>C (S100A13) XP_011508165.1:n.-363+199G>C
XM_011509863.3:c.-363+199G>C (S100A13) XP_011508165.1:n.-363+199G>C
XM_017002034.2:c.-279+199G>C (S100A13) XP_016857523.1:n.-279+199G>C
XM_017002035.2:c.-280+199G>C (S100A13) XP_016857524.1:n.-280+199G>C