Canonical Allele Identifier: CA400181029
Community Standard Title: NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50169232T>C , CM000679.2:g.50169232T>C GRCh38
NC_000017.10:g.48246593T>C , CM000679.1:g.48246593T>C GRCh37
NC_000017.9:g.45601592T>C NCBI36
NG_008889.1:g.8228T>C , LRG_203:g.8228T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.725T>C MANE Select NP_000014.1:p.Val242Ala
ENST00000262018.8:c.725T>C MANE Select ENSP00000262018.3:p.Val242Ala
NM_000023.2:c.725T>C , LRG_203t1:c.725T>C NP_000014.1:p.Val242Ala
NM_000023.3:c.725T>C NP_000014.1:p.Val242Ala
NM_001135697.1:c.584+660T>C NP_001129169.1:n.584+660T>C
NM_001135697.2:c.584+660T>C NP_001129169.1:n.584+660T>C
NM_001135697.3:c.584+660T>C NP_001129169.1:n.584+660T>C
NR_135553.1:n.781T>C
NR_135553.2:n.761T>C
ENST00000262018.7:c.725T>C ENSP00000262018.3:p.Val242Ala
ENST00000344627.10:c.584+660T>C ENSP00000345522.6:n.584+660T>C
ENST00000502555.5:c.*384T>C ENSP00000422817.1:n.*384T>C
ENST00000504073.1:c.64+128T>C
ENST00000504073.2:c.597+128T>C ENSP00000422030.2:n.597+128T>C
ENST00000511303.5:c.305+660T>C ENSP00000426104.1:n.305+660T>C
ENST00000511303.6:n.309+660T>C
ENST00000512526.1:c.419+660T>C
ENST00000512526.2:c.575+660T>C ENSP00000426606.2:n.575+660T>C
ENST00000513821.5:c.725T>C ENSP00000426571.1:p.Val242Ala
ENST00000513942.5:n.375+660T>C
ENST00000682109.1:c.605T>C ENSP00000508041.1:p.Val202Ala
ENST00000683226.1:n.435T>C
ENST00000683294.1:c.725T>C ENSP00000508134.1:p.Val242Ala
XM_011525120.1:c.725T>C XP_011523422.1:p.Val242Ala
XM_011525120.2:c.887T>C XP_011523422.2:p.Val296Ala
XM_011525121.1:c.597+128T>C XP_011523423.1:n.597+128T>C
XM_011525121.2:c.759+128T>C XP_011523423.2:n.759+128T>C
XM_011525122.1:c.725T>C XP_011523424.1:p.Val242Ala
XM_011525122.2:c.887T>C XP_011523424.2:p.Val296Ala
XM_011525123.1:c.584+660T>C XP_011523425.1:n.584+660T>C
XM_011525123.2:c.746+660T>C XP_011523425.2:n.746+660T>C
XM_011525124.1:c.419T>C XP_011523426.1:p.Val140Ala
XM_011525124.2:c.419T>C XP_011523426.1:p.Val140Ala
XM_024450873.1:c.419T>C XP_024306641.1:p.Val140Ala
XR_002958056.1:n.1243T>C
XR_934517.1:n.791T>C