Canonical Allele Identifier: CA400177560
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167659A>G , CM000679.2:g.50167659A>G GRCh38
NC_000017.10:g.48245020A>G , CM000679.1:g.48245020A>G GRCh37
NC_000017.9:g.45600019A>G NCBI36
NG_008889.1:g.6655A>G , LRG_203:g.6655A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.235A>G ENSP00000422030.2:p.Thr79Ala
ENST00000511303.6:n.38-288A>G
ENST00000512526.2:c.235A>G ENSP00000426606.2:p.Thr79Ala
ENST00000682109.1:c.115A>G ENSP00000508041.1:p.Thr39Ala
ENST00000683294.1:c.235A>G ENSP00000508134.1:p.Thr79Ala
ENST00000262018.8:c.235A>G MANE Select ENSP00000262018.3:p.Thr79Ala
ENST00000262018.7:c.235A>G ENSP00000262018.3:p.Thr79Ala
ENST00000344627.10:c.235A>G ENSP00000345522.6:p.Thr79Ala
ENST00000502555.5:c.157+172A>G ENSP00000422817.1:n.157+172A>G
ENST00000511303.5:c.34-288A>G ENSP00000426104.1:n.34-288A>G
ENST00000512526.1:c.79A>G
ENST00000513821.5:c.235A>G ENSP00000426571.1:p.Thr79Ala
ENST00000513942.5:n.104-288A>G
ENST00000514934.1:c.*18+172A>G ENSP00000423168.1:n.*18+172A>G
NM_000023.2:c.235A>G , LRG_203t1:c.235A>G NP_000014.1:p.Thr79Ala
NM_001135697.1:c.235A>G NP_001129169.1:p.Thr79Ala
XM_011525120.1:c.235A>G XP_011523422.1:p.Thr79Ala
XM_011525121.1:c.235A>G XP_011523423.1:p.Thr79Ala
XM_011525122.1:c.235A>G XP_011523424.1:p.Thr79Ala
XM_011525123.1:c.235A>G XP_011523425.1:p.Thr79Ala
XM_011525124.1:c.6+172A>G XP_011523426.1:n.6+172A>G
XR_934517.1:n.301A>G
NM_000023.3:c.235A>G NP_000014.1:p.Thr79Ala
NM_001135697.2:c.235A>G NP_001129169.1:p.Thr79Ala
NR_135553.1:n.291A>G
XM_011525120.2:c.397A>G XP_011523422.2:p.Thr133Ala
XM_011525121.2:c.397A>G XP_011523423.2:p.Thr133Ala
XM_011525122.2:c.397A>G XP_011523424.2:p.Thr133Ala
XM_011525123.2:c.397A>G XP_011523425.2:p.Thr133Ala
XM_011525124.2:c.6+172A>G XP_011523426.1:n.6+172A>G
XM_024450873.1:c.6+172A>G XP_024306641.1:n.6+172A>G
XR_002958056.1:n.753A>G
NM_000023.4:c.235A>G MANE Select NP_000014.1:p.Thr79Ala
NM_001135697.3:c.235A>G NP_001129169.1:p.Thr79Ala
NR_135553.2:n.271A>G