Canonical Allele Identifier: CA400176788
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167453C>G , CM000679.2:g.50167453C>G GRCh38
NC_000017.10:g.48244814C>G , CM000679.1:g.48244814C>G GRCh37
NC_000017.9:g.45599813C>G NCBI36
NG_008889.1:g.6449C>G , LRG_203:g.6449C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.123C>G ENSP00000422030.2:p.Asp41Glu
ENST00000511303.6:n.38-494C>G
ENST00000512526.2:c.123C>G ENSP00000426606.2:p.Asp41Glu
ENST00000682109.1:c.38-129C>G ENSP00000508041.1:n.38-129C>G
ENST00000683294.1:c.123C>G ENSP00000508134.1:p.Asp41Glu
ENST00000262018.8:c.123C>G MANE Select ENSP00000262018.3:p.Asp41Glu
ENST00000262018.7:c.123C>G ENSP00000262018.3:p.Asp41Glu
ENST00000344627.10:c.123C>G ENSP00000345522.6:p.Asp41Glu
ENST00000502555.5:c.123C>G ENSP00000422817.1:p.Asp41Glu
ENST00000511303.5:c.34-494C>G ENSP00000426104.1:n.34-494C>G
ENST00000513821.5:c.123C>G ENSP00000426571.1:p.Asp41Glu
ENST00000513942.5:n.104-494C>G
ENST00000514934.1:c.182C>G ENSP00000423168.1:p.Thr61Ser
NM_000023.2:c.123C>G , LRG_203t1:c.123C>G NP_000014.1:p.Asp41Glu
NM_001135697.1:c.123C>G NP_001129169.1:p.Asp41Glu
XM_011525120.1:c.123C>G XP_011523422.1:p.Asp41Glu
XM_011525121.1:c.123C>G XP_011523423.1:p.Asp41Glu
XM_011525122.1:c.123C>G XP_011523424.1:p.Asp41Glu
XM_011525123.1:c.123C>G XP_011523425.1:p.Asp41Glu
XM_011525124.1:c.-29C>G XP_011523426.1:n.-29C>G
XR_934517.1:n.189C>G
NM_000023.3:c.123C>G NP_000014.1:p.Asp41Glu
NM_001135697.2:c.123C>G NP_001129169.1:p.Asp41Glu
NR_135553.1:n.179C>G
XM_011525120.2:c.285C>G XP_011523422.2:p.Asp95Glu
XM_011525121.2:c.285C>G XP_011523423.2:p.Asp95Glu
XM_011525122.2:c.285C>G XP_011523424.2:p.Asp95Glu
XM_011525123.2:c.285C>G XP_011523425.2:p.Asp95Glu
XM_011525124.2:c.-29C>G XP_011523426.1:n.-29C>G
XM_024450873.1:c.-29C>G XP_024306641.1:n.-29C>G
XR_002958056.1:n.641C>G
NM_000023.4:c.123C>G MANE Select NP_000014.1:p.Asp41Glu
NM_001135697.3:c.123C>G NP_001129169.1:p.Asp41Glu
NR_135553.2:n.159C>G