Canonical Allele Identifier: CA8643930
Community Standard Title: NM_000023.4(SGCA):c.851G>A (p.Arg284His)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170246G>A , CM000679.2:g.50170246G>A GRCh38
NC_000017.10:g.48247607G>A , CM000679.1:g.48247607G>A GRCh37
NC_000017.9:g.45602606G>A NCBI36
NG_008889.1:g.9242G>A , LRG_203:g.9242G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.851G>A MANE Select NP_000014.1:p.Arg284His
ENST00000262018.8:c.851G>A MANE Select ENSP00000262018.3:p.Arg284His
NM_000023.2:c.851G>A , LRG_203t1:c.851G>A NP_000014.1:p.Arg284His
NM_000023.3:c.851G>A NP_000014.1:p.Arg284His
NM_001135697.1:c.585-394G>A NP_001129169.1:n.585-394G>A
NM_001135697.2:c.585-394G>A NP_001129169.1:n.585-394G>A
NM_001135697.3:c.585-394G>A NP_001129169.1:n.585-394G>A
NR_135553.1:n.804-394G>A
NR_135553.2:n.784-394G>A
ENST00000262018.7:c.851G>A ENSP00000262018.3:p.Arg284His
ENST00000344627.10:c.585-394G>A ENSP00000345522.6:n.585-394G>A
ENST00000504073.1:c.168G>A
ENST00000504073.2:c.701G>A ENSP00000422030.2:p.Arg234His
ENST00000511303.5:c.306-394G>A ENSP00000426104.1:n.306-394G>A
ENST00000511303.6:n.310-394G>A
ENST00000512526.1:c.420-394G>A
ENST00000512526.2:c.576-394G>A ENSP00000426606.2:n.576-394G>A
ENST00000513821.5:c.748-394G>A ENSP00000426571.1:n.748-394G>A
ENST00000513942.5:n.376-394G>A
ENST00000682109.1:c.731G>A ENSP00000508041.1:p.Arg244His
ENST00000683226.1:n.1449G>A
ENST00000683294.1:c.*59+58G>A ENSP00000508134.1:n.*59+58G>A
ENST00000683544.1:n.217G>A
XM_011525120.1:c.851G>A XP_011523422.1:p.Arg284His
XM_011525120.2:c.1013G>A XP_011523422.2:p.Arg338His
XM_011525121.1:c.701G>A XP_011523423.1:p.Arg234His
XM_011525121.2:c.863G>A XP_011523423.2:p.Arg288His
XM_011525122.1:c.748-394G>A XP_011523424.1:n.748-394G>A
XM_011525122.2:c.910-394G>A XP_011523424.2:n.910-394G>A
XM_011525123.1:c.585-394G>A XP_011523425.1:n.585-394G>A
XM_011525123.2:c.747-394G>A XP_011523425.2:n.747-394G>A
XM_011525124.1:c.545G>A XP_011523426.1:p.Arg182His
XM_011525124.2:c.545G>A XP_011523426.1:p.Arg182His
XM_024450873.1:c.545G>A XP_024306641.1:p.Arg182His
XR_002958056.1:n.1448G>A
XR_934517.1:n.814-394G>A