Canonical Allele Identifier: CA8643627
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50166010T>C , CM000679.2:g.50166010T>C GRCh38
NC_000017.10:g.48243371T>C , CM000679.1:g.48243371T>C GRCh37
NC_000017.9:g.45598370T>C NCBI36
NG_008889.1:g.5006T>C , LRG_203:g.5006T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262018.8:c.-31T>C MANE Select ENSP00000262018.3:n.-31T>C
ENST00000262018.7:c.-31T>C ENSP00000262018.3:n.-31T>C
ENST00000344627.10:c.-31T>C ENSP00000345522.6:n.-31T>C
ENST00000502555.5:c.-31T>C ENSP00000422817.1:n.-31T>C
ENST00000513821.5:c.-31T>C ENSP00000426571.1:n.-31T>C
ENST00000513942.5:n.103+1694T>C
ENST00000514934.1:c.-31T>C ENSP00000423168.1:n.-31T>C
NM_000023.2:c.-31T>C , LRG_203t1:c.-31T>C NP_000014.1:n.-31T>C
NM_001135697.1:c.-31T>C NP_001129169.1:n.-31T>C
XM_011525120.1:c.-31T>C XP_011523422.1:n.-31T>C
XM_011525121.1:c.-31T>C XP_011523423.1:n.-31T>C
XM_011525122.1:c.-31T>C XP_011523424.1:n.-31T>C
XM_011525123.1:c.-31T>C XP_011523425.1:n.-31T>C
XM_011525124.1:c.-182T>C XP_011523426.1:n.-182T>C
XR_934517.1:n.36T>C
XR_934832.1:n.86+8A>G
XR_934833.1:n.86+8A>G
XR_934834.1:n.86+8A>G
XR_934835.1:n.86+8A>G
NM_000023.3:c.-31T>C NP_000014.1:n.-31T>C
NM_001135697.2:c.-31T>C NP_001129169.1:n.-31T>C
NR_135553.1:n.26T>C
XM_011525120.2:c.132T>C XP_011523422.2:p.Cys44=
XM_011525121.2:c.132T>C XP_011523423.2:p.Cys44=
XM_011525122.2:c.132T>C XP_011523424.2:p.Cys44=
XM_011525123.2:c.132T>C XP_011523425.2:p.Cys44=
XM_011525124.2:c.-182T>C XP_011523426.1:n.-182T>C
XM_024450873.1:c.-182T>C XP_024306641.1:n.-182T>C
XR_001752932.1:n.705+8A>G
XR_002958056.1:n.488T>C
XR_934832.2:n.705+8A>G
XR_934833.2:n.705+8A>G
XR_934835.2:n.705+8A>G
NM_000023.4:c.-31T>C MANE Select NP_000014.1:n.-31T>C
NM_001135697.3:c.-31T>C NP_001129169.1:n.-31T>C
NR_135553.2:n.6T>C