Canonical Allele Identifier: CA500829814

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170641C>T , CM000679.2:g.50170641C>T	GRCh38
NC_000017.10:g.48248002C>T , CM000679.1:g.48248002C>T	GRCh37
NC_000017.9:g.45603001C>T	NCBI36
NG_008889.1:g.9637C>T , LRG_203:g.9637C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.958C>T MANE Select	NP_000014.1:p.Leu320=
ENST00000262018.8:c.958C>T MANE Select	ENSP00000262018.3:p.Leu320=
NM_000023.2:c.958C>T , LRG_203t1:c.958C>T	NP_000014.1:p.Leu320=
NM_000023.3:c.958C>T	NP_000014.1:p.Leu320=
NM_001135697.1:c.586C>T	NP_001129169.1:p.Leu196=
NM_001135697.2:c.586C>T	NP_001129169.1:p.Leu196=
NM_001135697.3:c.586C>T	NP_001129169.1:p.Leu196=
NR_135553.1:n.805C>T
NR_135553.2:n.785C>T
ENST00000262018.7:c.958C>T	ENSP00000262018.3:p.Leu320=
ENST00000344627.10:c.586C>T	ENSP00000345522.6:p.Leu196=
ENST00000504073.1:c.275C>T
ENST00000504073.2:c.808C>T	ENSP00000422030.2:p.Leu270=
ENST00000511303.5:c.307C>T	ENSP00000426104.1:p.Leu103=
ENST00000511303.6:n.311C>T
ENST00000512526.1:c.421C>T
ENST00000512526.2:c.577C>T	ENSP00000426606.2:n.577C>T
ENST00000513821.5:c.749C>T	ENSP00000426571.1:p.Ala250Val
ENST00000513942.5:n.377C>T
ENST00000682109.1:c.838C>T	ENSP00000508041.1:p.Leu280=
ENST00000683226.1:n.1556C>T
ENST00000683294.1:c.*61C>T	ENSP00000508134.1:n.*61C>T
ENST00000683544.1:n.612C>T
XM_011525120.1:c.958C>T	XP_011523422.1:p.Leu320=
XM_011525120.2:c.1120C>T	XP_011523422.2:p.Leu374=
XM_011525121.1:c.808C>T	XP_011523423.1:p.Leu270=
XM_011525121.2:c.970C>T	XP_011523423.2:p.Leu324=
XM_011525122.1:c.749C>T	XP_011523424.1:p.Ala250Val
XM_011525122.2:c.911C>T	XP_011523424.2:p.Ala304Val
XM_011525123.1:c.586C>T	XP_011523425.1:p.Leu196=
XM_011525123.2:c.748C>T	XP_011523425.2:p.Leu250=
XM_011525124.1:c.652C>T	XP_011523426.1:p.Leu218=
XM_011525124.2:c.652C>T	XP_011523426.1:p.Leu218=
XM_024450873.1:c.652C>T	XP_024306641.1:p.Leu218=
XR_002958056.1:n.1555C>T
XR_934517.1:n.815C>T