Canonical Allele Identifier: CA400182212
Community Standard Title: NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170300T>G , CM000679.2:g.50170300T>G GRCh38
NC_000017.10:g.48247661T>G , CM000679.1:g.48247661T>G GRCh37
NC_000017.9:g.45602660T>G NCBI36
NG_008889.1:g.9296T>G , LRG_203:g.9296T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.905T>G MANE Select NP_000014.1:p.Leu302Arg
ENST00000262018.8:c.905T>G MANE Select ENSP00000262018.3:p.Leu302Arg
NM_000023.2:c.905T>G , LRG_203t1:c.905T>G NP_000014.1:p.Leu302Arg
NM_000023.3:c.905T>G NP_000014.1:p.Leu302Arg
NM_001135697.1:c.585-340T>G NP_001129169.1:n.585-340T>G
NM_001135697.2:c.585-340T>G NP_001129169.1:n.585-340T>G
NM_001135697.3:c.585-340T>G NP_001129169.1:n.585-340T>G
NR_135553.1:n.804-340T>G
NR_135553.2:n.784-340T>G
ENST00000262018.7:c.905T>G ENSP00000262018.3:p.Leu302Arg
ENST00000344627.10:c.585-340T>G ENSP00000345522.6:n.585-340T>G
ENST00000504073.1:c.222T>G
ENST00000504073.2:c.755T>G ENSP00000422030.2:p.Leu252Arg
ENST00000511303.5:c.306-340T>G ENSP00000426104.1:n.306-340T>G
ENST00000511303.6:n.310-340T>G
ENST00000512526.1:c.420-340T>G
ENST00000512526.2:c.576-340T>G ENSP00000426606.2:n.576-340T>G
ENST00000513821.5:c.748-340T>G ENSP00000426571.1:n.748-340T>G
ENST00000513942.5:n.376-340T>G
ENST00000682109.1:c.785T>G ENSP00000508041.1:p.Leu262Arg
ENST00000683226.1:n.1503T>G
ENST00000683294.1:c.*59+112T>G ENSP00000508134.1:n.*59+112T>G
ENST00000683544.1:n.271T>G
XM_011525120.1:c.905T>G XP_011523422.1:p.Leu302Arg
XM_011525120.2:c.1067T>G XP_011523422.2:p.Leu356Arg
XM_011525121.1:c.755T>G XP_011523423.1:p.Leu252Arg
XM_011525121.2:c.917T>G XP_011523423.2:p.Leu306Arg
XM_011525122.1:c.748-340T>G XP_011523424.1:n.748-340T>G
XM_011525122.2:c.910-340T>G XP_011523424.2:n.910-340T>G
XM_011525123.1:c.585-340T>G XP_011523425.1:n.585-340T>G
XM_011525123.2:c.747-340T>G XP_011523425.2:n.747-340T>G
XM_011525124.1:c.599T>G XP_011523426.1:p.Leu200Arg
XM_011525124.2:c.599T>G XP_011523426.1:p.Leu200Arg
XM_024450873.1:c.599T>G XP_024306641.1:p.Leu200Arg
XR_002958056.1:n.1502T>G
XR_934517.1:n.814-340T>G