Canonical Allele Identifier: CA400181242
Community Standard Title: NM_000023.4(SGCA):c.748G>T (p.Val250Leu)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170143G>T , CM000679.2:g.50170143G>T GRCh38
NC_000017.10:g.48247504G>T , CM000679.1:g.48247504G>T GRCh37
NC_000017.9:g.45602503G>T NCBI36
NG_008889.1:g.9139G>T , LRG_203:g.9139G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.748G>T MANE Select NP_000014.1:p.Val250Leu
ENST00000262018.8:c.748G>T MANE Select ENSP00000262018.3:p.Val250Leu
NM_000023.2:c.748G>T , LRG_203t1:c.748G>T NP_000014.1:p.Val250Leu
NM_000023.3:c.748G>T NP_000014.1:p.Val250Leu
NM_001135697.1:c.585-497G>T NP_001129169.1:n.585-497G>T
NM_001135697.2:c.585-497G>T NP_001129169.1:n.585-497G>T
NM_001135697.3:c.585-497G>T NP_001129169.1:n.585-497G>T
NR_135553.1:n.804-497G>T
NR_135553.2:n.784-497G>T
ENST00000262018.7:c.748G>T ENSP00000262018.3:p.Val250Leu
ENST00000344627.10:c.585-497G>T ENSP00000345522.6:n.585-497G>T
ENST00000504073.1:c.65G>T
ENST00000504073.2:c.598G>T ENSP00000422030.2:p.Val200Leu
ENST00000511303.5:c.306-497G>T ENSP00000426104.1:n.306-497G>T
ENST00000511303.6:n.310-497G>T
ENST00000512526.1:c.420-497G>T
ENST00000512526.2:c.576-497G>T ENSP00000426606.2:n.576-497G>T
ENST00000513821.5:c.748-497G>T ENSP00000426571.1:n.748-497G>T
ENST00000513942.5:n.376-497G>T
ENST00000682109.1:c.628G>T ENSP00000508041.1:p.Val210Leu
ENST00000683226.1:n.1346G>T
ENST00000683294.1:c.*14G>T ENSP00000508134.1:n.*14G>T
ENST00000683544.1:n.114G>T
XM_011525120.1:c.748G>T XP_011523422.1:p.Val250Leu
XM_011525120.2:c.910G>T XP_011523422.2:p.Val304Leu
XM_011525121.1:c.598G>T XP_011523423.1:p.Val200Leu
XM_011525121.2:c.760G>T XP_011523423.2:p.Val254Leu
XM_011525122.1:c.748-497G>T XP_011523424.1:n.748-497G>T
XM_011525122.2:c.910-497G>T XP_011523424.2:n.910-497G>T
XM_011525123.1:c.585-497G>T XP_011523425.1:n.585-497G>T
XM_011525123.2:c.747-497G>T XP_011523425.2:n.747-497G>T
XM_011525124.1:c.442G>T XP_011523426.1:p.Val148Leu
XM_011525124.2:c.442G>T XP_011523426.1:p.Val148Leu
XM_024450873.1:c.442G>T XP_024306641.1:p.Val148Leu
XR_002958056.1:n.1345G>T
XR_934517.1:n.814-497G>T