Canonical Allele Identifier: CA400177983
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167731A>C , CM000679.2:g.50167731A>C GRCh38
NC_000017.10:g.48245092A>C , CM000679.1:g.48245092A>C GRCh37
NC_000017.9:g.45600091A>C NCBI36
NG_008889.1:g.6727A>C , LRG_203:g.6727A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.307A>C ENSP00000422030.2:p.Ile103Leu
ENST00000511303.6:n.38-216A>C
ENST00000512526.2:c.303+4A>C ENSP00000426606.2:n.303+4A>C
ENST00000682109.1:c.187A>C ENSP00000508041.1:p.Ile63Leu
ENST00000683226.1:n.17A>C
ENST00000683294.1:c.307A>C ENSP00000508134.1:p.Ile103Leu
ENST00000262018.8:c.307A>C MANE Select ENSP00000262018.3:p.Ile103Leu
ENST00000262018.7:c.307A>C ENSP00000262018.3:p.Ile103Leu
ENST00000344627.10:c.307A>C ENSP00000345522.6:p.Ile103Leu
ENST00000502555.5:c.158-216A>C ENSP00000422817.1:n.158-216A>C
ENST00000511303.5:c.34-216A>C ENSP00000426104.1:n.34-216A>C
ENST00000512526.1:c.147+4A>C
ENST00000513821.5:c.307A>C ENSP00000426571.1:p.Ile103Leu
ENST00000513942.5:n.104-216A>C
ENST00000514934.1:c.*19-216A>C ENSP00000423168.1:n.*19-216A>C
NM_000023.2:c.307A>C , LRG_203t1:c.307A>C NP_000014.1:p.Ile103Leu
NM_001135697.1:c.307A>C NP_001129169.1:p.Ile103Leu
XM_011525120.1:c.307A>C XP_011523422.1:p.Ile103Leu
XM_011525121.1:c.307A>C XP_011523423.1:p.Ile103Leu
XM_011525122.1:c.307A>C XP_011523424.1:p.Ile103Leu
XM_011525123.1:c.307A>C XP_011523425.1:p.Ile103Leu
XM_011525124.1:c.7-216A>C XP_011523426.1:n.7-216A>C
XR_934517.1:n.373A>C
NM_000023.3:c.307A>C NP_000014.1:p.Ile103Leu
NM_001135697.2:c.307A>C NP_001129169.1:p.Ile103Leu
NR_135553.1:n.363A>C
XM_011525120.2:c.469A>C XP_011523422.2:p.Ile157Leu
XM_011525121.2:c.469A>C XP_011523423.2:p.Ile157Leu
XM_011525122.2:c.469A>C XP_011523424.2:p.Ile157Leu
XM_011525123.2:c.469A>C XP_011523425.2:p.Ile157Leu
XM_011525124.2:c.7-216A>C XP_011523426.1:n.7-216A>C
XM_024450873.1:c.7-216A>C XP_024306641.1:n.7-216A>C
XR_002958056.1:n.825A>C
NM_000023.4:c.307A>C MANE Select NP_000014.1:p.Ile103Leu
NM_001135697.3:c.307A>C NP_001129169.1:p.Ile103Leu
NR_135553.2:n.343A>C