Canonical Allele Identifier: CA291537292

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170906A>T , CM000679.2:g.50170906A>T	GRCh38
NC_000017.10:g.48248267A>T , CM000679.1:g.48248267A>T	GRCh37
NC_000017.9:g.45603266A>T	NCBI36
NG_008889.1:g.9902A>T , LRG_203:g.9902A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.983+240A>T MANE Select	NP_000014.1:n.983+240A>T
ENST00000262018.8:c.983+240A>T MANE Select	ENSP00000262018.3:n.983+240A>T
NM_000023.2:c.983+240A>T , LRG_203t1:c.983+240A>T	NP_000014.1:n.983+240A>T
NM_000023.3:c.983+240A>T	NP_000014.1:n.983+240A>T
NM_001135697.1:c.611+240A>T	NP_001129169.1:n.611+240A>T
NM_001135697.2:c.611+240A>T	NP_001129169.1:n.611+240A>T
NM_001135697.3:c.611+240A>T	NP_001129169.1:n.611+240A>T
NR_135553.1:n.830+240A>T
NR_135553.2:n.810+240A>T
ENST00000262018.7:c.983+240A>T	ENSP00000262018.3:n.983+240A>T
ENST00000344627.10:c.611+240A>T	ENSP00000345522.6:n.611+240A>T
ENST00000504073.1:c.300+240A>T
ENST00000504073.2:c.833+240A>T	ENSP00000422030.2:n.833+240A>T
ENST00000511303.5:c.332+240A>T	ENSP00000426104.1:n.332+240A>T
ENST00000511303.6:n.336+240A>T
ENST00000512526.1:c.446+240A>T
ENST00000512526.2:c.602+240A>T	ENSP00000426606.2:n.602+240A>T
ENST00000513821.5:c.774+240A>T	ENSP00000426571.1:n.774+240A>T
ENST00000513942.5:n.402+240A>T
ENST00000682109.1:c.863+240A>T	ENSP00000508041.1:n.863+240A>T
ENST00000683226.1:n.1581+240A>T
ENST00000683294.1:c.*86+240A>T	ENSP00000508134.1:n.*86+240A>T
ENST00000683544.1:n.637+240A>T
XM_011525120.1:c.983+240A>T	XP_011523422.1:n.983+240A>T
XM_011525120.2:c.1145+240A>T	XP_011523422.2:n.1145+240A>T
XM_011525121.1:c.833+240A>T	XP_011523423.1:n.833+240A>T
XM_011525121.2:c.995+240A>T	XP_011523423.2:n.995+240A>T
XM_011525122.1:c.774+240A>T	XP_011523424.1:n.774+240A>T
XM_011525122.2:c.936+240A>T	XP_011523424.2:n.936+240A>T
XM_011525123.1:c.611+240A>T	XP_011523425.1:n.611+240A>T
XM_011525123.2:c.773+240A>T	XP_011523425.2:n.773+240A>T
XM_011525124.1:c.677+240A>T	XP_011523426.1:n.677+240A>T
XM_011525124.2:c.677+240A>T	XP_011523426.1:n.677+240A>T
XM_024450873.1:c.677+240A>T	XP_024306641.1:n.677+240A>T
XR_002958056.1:n.1580+240A>T
XR_934517.1:n.840+240A>T