Canonical Allele Identifier: CA2263905394
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167651T= , CM000679.2:g.50167651T= GRCh38
NC_000017.10:g.48245012T= , CM000679.1:g.48245012T= GRCh37
NC_000017.9:g.45600011T= NCBI36
NG_008889.1:g.6647T= , LRG_203:g.6647T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.227T= ENSP00000422030.2:p.Leu76=
ENST00000511303.6:n.38-296T=
ENST00000512526.2:c.227T= ENSP00000426606.2:p.Leu76=
ENST00000682109.1:c.107T= ENSP00000508041.1:p.Leu36=
ENST00000683294.1:c.227T= ENSP00000508134.1:p.Leu76=
ENST00000262018.8:c.227T= MANE Select ENSP00000262018.3:p.Leu76=
ENST00000262018.7:c.227T= ENSP00000262018.3:p.Leu76=
ENST00000344627.10:c.227T= ENSP00000345522.6:p.Leu76=
ENST00000502555.5:c.157+164T= ENSP00000422817.1:n.157+164T=
ENST00000511303.5:c.34-296T= ENSP00000426104.1:n.34-296T=
ENST00000512526.1:c.71T=
ENST00000513821.5:c.227T= ENSP00000426571.1:p.Leu76=
ENST00000513942.5:n.104-296T=
ENST00000514934.1:c.*18+164T= ENSP00000423168.1:n.*18+164T=
NM_000023.2:c.227T= , LRG_203t1:c.227T= NP_000014.1:p.Leu76=
NM_001135697.1:c.227T= NP_001129169.1:p.Leu76=
XM_011525120.1:c.227T= XP_011523422.1:p.Leu76=
XM_011525121.1:c.227T= XP_011523423.1:p.Leu76=
XM_011525122.1:c.227T= XP_011523424.1:p.Leu76=
XM_011525123.1:c.227T= XP_011523425.1:p.Leu76=
XM_011525124.1:c.6+164T= XP_011523426.1:n.6+164T=
XR_934517.1:n.293T=
NM_000023.3:c.227T= NP_000014.1:p.Leu76=
NM_001135697.2:c.227T= NP_001129169.1:p.Leu76=
NR_135553.1:n.283T=
XM_011525120.2:c.389T= XP_011523422.2:p.Leu130=
XM_011525121.2:c.389T= XP_011523423.2:p.Leu130=
XM_011525122.2:c.389T= XP_011523424.2:p.Leu130=
XM_011525123.2:c.389T= XP_011523425.2:p.Leu130=
XM_011525124.2:c.6+164T= XP_011523426.1:n.6+164T=
XM_024450873.1:c.6+164T= XP_024306641.1:n.6+164T=
XR_002958056.1:n.745T=
NM_000023.4:c.227T= MANE Select NP_000014.1:p.Leu76=
NM_001135697.3:c.227T= NP_001129169.1:p.Leu76=
NR_135553.2:n.263T=