Canonical Allele Identifier: CA2263905681

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168506T= , CM000679.2:g.50168506T=	GRCh38
NC_000017.10:g.48245867T= , CM000679.1:g.48245867T=	GRCh37
NC_000017.9:g.45600866T=	NCBI36
NG_008889.1:g.7502T= , LRG_203:g.7502T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.518T= MANE Select	NP_000014.1:p.Leu173=
ENST00000262018.8:c.518T= MANE Select	ENSP00000262018.3:p.Leu173=
NM_000023.2:c.518T= , LRG_203t1:c.518T=	NP_000014.1:p.Leu173=
NM_000023.3:c.518T=	NP_000014.1:p.Leu173=
NM_001135697.1:c.518T=	NP_001129169.1:p.Leu173=
NM_001135697.2:c.518T=	NP_001129169.1:p.Leu173=
NM_001135697.3:c.518T=	NP_001129169.1:p.Leu173=
NR_135553.1:n.574T=
NR_135553.2:n.554T=
ENST00000262018.7:c.518T=	ENSP00000262018.3:p.Leu173=
ENST00000344627.10:c.518T=	ENSP00000345522.6:p.Leu173=
ENST00000502555.5:c.*177T=	ENSP00000422817.1:n.*177T=
ENST00000504073.2:c.518T=	ENSP00000422030.2:p.Leu173=
ENST00000511303.5:c.239T=	ENSP00000426104.1:p.Leu80=
ENST00000511303.6:n.243T=
ENST00000512526.1:c.353T=
ENST00000512526.2:c.509T=	ENSP00000426606.2:n.509T=
ENST00000513821.5:c.518T=	ENSP00000426571.1:p.Leu173=
ENST00000513942.5:n.309T=
ENST00000514934.1:c.*224T=	ENSP00000423168.1:n.*224T=
ENST00000682109.1:c.398T=	ENSP00000508041.1:p.Leu133=
ENST00000683226.1:n.228T=
ENST00000683294.1:c.518T=	ENSP00000508134.1:p.Leu173=
XM_011525120.1:c.518T=	XP_011523422.1:p.Leu173=
XM_011525120.2:c.680T=	XP_011523422.2:p.Leu227=
XM_011525121.1:c.518T=	XP_011523423.1:p.Leu173=
XM_011525121.2:c.680T=	XP_011523423.2:p.Leu227=
XM_011525122.1:c.518T=	XP_011523424.1:p.Leu173=
XM_011525122.2:c.680T=	XP_011523424.2:p.Leu227=
XM_011525123.1:c.518T=	XP_011523425.1:p.Leu173=
XM_011525123.2:c.680T=	XP_011523425.2:p.Leu227=
XM_011525124.1:c.212T=	XP_011523426.1:p.Leu71=
XM_011525124.2:c.212T=	XP_011523426.1:p.Leu71=
XM_024450873.1:c.212T=	XP_024306641.1:p.Leu71=
XR_002958056.1:n.1036T=
XR_934517.1:n.584T=