Canonical Allele Identifier: CA2263905705

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168547C= , CM000679.2:g.50168547C=	GRCh38
NC_000017.10:g.48245908C= , CM000679.1:g.48245908C=	GRCh37
NC_000017.9:g.45600907C=	NCBI36
NG_008889.1:g.7543C= , LRG_203:g.7543C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.559C=	ENSP00000422030.2:p.Leu187=
ENST00000511303.6:n.284C=
ENST00000512526.2:c.550C=	ENSP00000426606.2:n.550C=
ENST00000682109.1:c.439C=	ENSP00000508041.1:p.Leu147=
ENST00000683226.1:n.269C=
ENST00000683294.1:c.559C=	ENSP00000508134.1:p.Leu187=
ENST00000262018.8:c.559C= MANE Select	ENSP00000262018.3:p.Leu187=
ENST00000262018.7:c.559C=	ENSP00000262018.3:p.Leu187=
ENST00000344627.10:c.559C=	ENSP00000345522.6:p.Leu187=
ENST00000502555.5:c.*218C=	ENSP00000422817.1:n.*218C=
ENST00000504073.1:c.26C=
ENST00000511303.5:c.280C=	ENSP00000426104.1:p.Leu94=
ENST00000512526.1:c.394C=
ENST00000513821.5:c.559C=	ENSP00000426571.1:p.Leu187=
ENST00000513942.5:n.350C=
ENST00000514934.1:c.*265C=	ENSP00000423168.1:n.*265C=
NM_000023.2:c.559C= , LRG_203t1:c.559C=	NP_000014.1:p.Leu187=
NM_001135697.1:c.559C=	NP_001129169.1:p.Leu187=
XM_011525120.1:c.559C=	XP_011523422.1:p.Leu187=
XM_011525121.1:c.559C=	XP_011523423.1:p.Leu187=
XM_011525122.1:c.559C=	XP_011523424.1:p.Leu187=
XM_011525123.1:c.559C=	XP_011523425.1:p.Leu187=
XM_011525124.1:c.253C=	XP_011523426.1:p.Leu85=
XR_934517.1:n.625C=
NM_000023.3:c.559C=	NP_000014.1:p.Leu187=
NM_001135697.2:c.559C=	NP_001129169.1:p.Leu187=
NR_135553.1:n.615C=
XM_011525120.2:c.721C=	XP_011523422.2:p.Leu241=
XM_011525121.2:c.721C=	XP_011523423.2:p.Leu241=
XM_011525122.2:c.721C=	XP_011523424.2:p.Leu241=
XM_011525123.2:c.721C=	XP_011523425.2:p.Leu241=
XM_011525124.2:c.253C=	XP_011523426.1:p.Leu85=
XM_024450873.1:c.253C=	XP_024306641.1:p.Leu85=
XR_002958056.1:n.1077C=
NM_000023.4:c.559C= MANE Select	NP_000014.1:p.Leu187=
NM_001135697.3:c.559C=	NP_001129169.1:p.Leu187=
NR_135553.2:n.595C=