Canonical Allele Identifier: CA400181238
Community Standard Title: NM_000023.4(SGCA):c.748-2A>T
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170141A>T , CM000679.2:g.50170141A>T GRCh38
NC_000017.10:g.48247502A>T , CM000679.1:g.48247502A>T GRCh37
NC_000017.9:g.45602501A>T NCBI36
NG_008889.1:g.9137A>T , LRG_203:g.9137A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.748-2A>T MANE Select NP_000014.1:n.748-2A>T
ENST00000262018.8:c.748-2A>T MANE Select ENSP00000262018.3:n.748-2A>T
NM_000023.2:c.748-2A>T , LRG_203t1:c.748-2A>T NP_000014.1:n.748-2A>T
NM_000023.3:c.748-2A>T NP_000014.1:n.748-2A>T
NM_001135697.1:c.585-499A>T NP_001129169.1:n.585-499A>T
NM_001135697.2:c.585-499A>T NP_001129169.1:n.585-499A>T
NM_001135697.3:c.585-499A>T NP_001129169.1:n.585-499A>T
NR_135553.1:n.804-499A>T
NR_135553.2:n.784-499A>T
ENST00000262018.7:c.748-2A>T ENSP00000262018.3:n.748-2A>T
ENST00000344627.10:c.585-499A>T ENSP00000345522.6:n.585-499A>T
ENST00000504073.1:c.65-2A>T
ENST00000504073.2:c.598-2A>T ENSP00000422030.2:n.598-2A>T
ENST00000511303.5:c.306-499A>T ENSP00000426104.1:n.306-499A>T
ENST00000511303.6:n.310-499A>T
ENST00000512526.1:c.420-499A>T
ENST00000512526.2:c.576-499A>T ENSP00000426606.2:n.576-499A>T
ENST00000513821.5:c.748-499A>T ENSP00000426571.1:n.748-499A>T
ENST00000513942.5:n.376-499A>T
ENST00000682109.1:c.628-2A>T ENSP00000508041.1:n.628-2A>T
ENST00000683226.1:n.1344A>T
ENST00000683294.1:c.*12A>T ENSP00000508134.1:n.*12A>T
ENST00000683544.1:n.112A>T
XM_011525120.1:c.748-2A>T XP_011523422.1:n.748-2A>T
XM_011525120.2:c.910-2A>T XP_011523422.2:n.910-2A>T
XM_011525121.1:c.598-2A>T XP_011523423.1:n.598-2A>T
XM_011525121.2:c.760-2A>T XP_011523423.2:n.760-2A>T
XM_011525122.1:c.748-499A>T XP_011523424.1:n.748-499A>T
XM_011525122.2:c.910-499A>T XP_011523424.2:n.910-499A>T
XM_011525123.1:c.585-499A>T XP_011523425.1:n.585-499A>T
XM_011525123.2:c.747-499A>T XP_011523425.2:n.747-499A>T
XM_011525124.1:c.442-2A>T XP_011523426.1:n.442-2A>T
XM_011525124.2:c.442-2A>T XP_011523426.1:n.442-2A>T
XM_024450873.1:c.442-2A>T XP_024306641.1:n.442-2A>T
XR_002958056.1:n.1343A>T
XR_934517.1:n.814-499A>T