Canonical Allele Identifier: CA291568976

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50166078G>T , CM000679.2:g.50166078G>T	GRCh38
NC_000017.10:g.48243439G>T , CM000679.1:g.48243439G>T	GRCh37
NC_000017.9:g.45598438G>T	NCBI36
NG_008889.1:g.5074G>T , LRG_203:g.5074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.37+1G>T	ENSP00000422030.2:n.37+1G>T
ENST00000511303.6:n.37+1G>T
ENST00000512526.2:c.37+1G>T	ENSP00000426606.2:n.37+1G>T
ENST00000682109.1:c.37+1G>T	ENSP00000508041.1:n.37+1G>T
ENST00000683294.1:c.37+1G>T	ENSP00000508134.1:n.37+1G>T
ENST00000262018.8:c.37+1G>T MANE Select	ENSP00000262018.3:n.37+1G>T
ENST00000262018.7:c.37+1G>T	ENSP00000262018.3:n.37+1G>T
ENST00000344627.10:c.37+1G>T	ENSP00000345522.6:n.37+1G>T
ENST00000502555.5:c.37+1G>T	ENSP00000422817.1:n.37+1G>T
ENST00000511303.5:c.33+1G>T	ENSP00000426104.1:n.33+1G>T
ENST00000513821.5:c.37+1G>T	ENSP00000426571.1:n.37+1G>T
ENST00000513942.5:n.103+1762G>T
ENST00000514934.1:c.38G>T	ENSP00000423168.1:p.Gly13Val
NM_000023.2:c.37+1G>T , LRG_203t1:c.37+1G>T	NP_000014.1:n.37+1G>T
NM_001135697.1:c.37+1G>T	NP_001129169.1:n.37+1G>T
XM_011525120.1:c.37+1G>T	XP_011523422.1:n.37+1G>T
XM_011525121.1:c.37+1G>T	XP_011523423.1:n.37+1G>T
XM_011525122.1:c.37+1G>T	XP_011523424.1:n.37+1G>T
XM_011525123.1:c.37+1G>T	XP_011523425.1:n.37+1G>T
XM_011525124.1:c.-115+1G>T	XP_011523426.1:n.-115+1G>T
XR_934517.1:n.103+1G>T
XR_934832.1:n.26C>A
XR_934833.1:n.26C>A
XR_934834.1:n.26C>A
XR_934835.1:n.26C>A
NM_000023.3:c.37+1G>T	NP_000014.1:n.37+1G>T
NM_001135697.2:c.37+1G>T	NP_001129169.1:n.37+1G>T
NR_135553.1:n.93+1G>T
XM_011525120.2:c.199+1G>T	XP_011523422.2:n.199+1G>T
XM_011525121.2:c.199+1G>T	XP_011523423.2:n.199+1G>T
XM_011525122.2:c.199+1G>T	XP_011523424.2:n.199+1G>T
XM_011525123.2:c.199+1G>T	XP_011523425.2:n.199+1G>T
XM_011525124.2:c.-115+1G>T	XP_011523426.1:n.-115+1G>T
XM_024450873.1:c.-115+1G>T	XP_024306641.1:n.-115+1G>T
XR_001752932.1:n.645C>A
XR_002958056.1:n.555+1G>T
XR_934832.2:n.645C>A
XR_934833.2:n.645C>A
XR_934835.2:n.645C>A
NM_000023.4:c.37+1G>T MANE Select	NP_000014.1:n.37+1G>T
NM_001135697.3:c.37+1G>T	NP_001129169.1:n.37+1G>T
NR_135553.2:n.73+1G>T