Canonical Allele Identifier: CA2512752058
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168327A>G , CM000679.2:g.50168327A>G GRCh38
NC_000017.10:g.48245688A>G , CM000679.1:g.48245688A>G GRCh37
NC_000017.9:g.45600687A>G NCBI36
NG_008889.1:g.7323A>G , LRG_203:g.7323A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.386-47A>G ENSP00000422030.2:n.386-47A>G
ENST00000511303.6:n.111-47A>G
ENST00000512526.2:c.377-47A>G ENSP00000426606.2:n.377-47A>G
ENST00000682109.1:c.266-47A>G ENSP00000508041.1:n.266-47A>G
ENST00000683226.1:n.96-47A>G
ENST00000683294.1:c.386-47A>G ENSP00000508134.1:n.386-47A>G
ENST00000262018.8:c.386-47A>G MANE Select ENSP00000262018.3:n.386-47A>G
ENST00000262018.7:c.386-47A>G ENSP00000262018.3:n.386-47A>G
ENST00000344627.10:c.386-47A>G ENSP00000345522.6:n.386-47A>G
ENST00000502555.5:c.*45-47A>G ENSP00000422817.1:n.*45-47A>G
ENST00000511303.5:c.107-47A>G ENSP00000426104.1:n.107-47A>G
ENST00000512526.1:c.221-47A>G
ENST00000513821.5:c.386-47A>G ENSP00000426571.1:n.386-47A>G
ENST00000513942.5:n.177-47A>G
ENST00000514934.1:c.*92-47A>G ENSP00000423168.1:n.*92-47A>G
NM_000023.2:c.386-47A>G , LRG_203t1:c.386-47A>G NP_000014.1:n.386-47A>G
NM_001135697.1:c.386-47A>G NP_001129169.1:n.386-47A>G
XM_011525120.1:c.386-47A>G XP_011523422.1:n.386-47A>G
XM_011525121.1:c.386-47A>G XP_011523423.1:n.386-47A>G
XM_011525122.1:c.386-47A>G XP_011523424.1:n.386-47A>G
XM_011525123.1:c.386-47A>G XP_011523425.1:n.386-47A>G
XM_011525124.1:c.80-47A>G XP_011523426.1:n.80-47A>G
XR_934517.1:n.452-47A>G
NM_000023.3:c.386-47A>G NP_000014.1:n.386-47A>G
NM_001135697.2:c.386-47A>G NP_001129169.1:n.386-47A>G
NR_135553.1:n.442-47A>G
XM_011525120.2:c.548-47A>G XP_011523422.2:n.548-47A>G
XM_011525121.2:c.548-47A>G XP_011523423.2:n.548-47A>G
XM_011525122.2:c.548-47A>G XP_011523424.2:n.548-47A>G
XM_011525123.2:c.548-47A>G XP_011523425.2:n.548-47A>G
XM_011525124.2:c.80-47A>G XP_011523426.1:n.80-47A>G
XM_024450873.1:c.80-47A>G XP_024306641.1:n.80-47A>G
XR_002958056.1:n.904-47A>G
NM_000023.4:c.386-47A>G MANE Select NP_000014.1:n.386-47A>G
NM_001135697.3:c.386-47A>G NP_001129169.1:n.386-47A>G
NR_135553.2:n.422-47A>G