Canonical Allele Identifier: CA2263905679

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168499C= , CM000679.2:g.50168499C=	GRCh38
NC_000017.10:g.48245860C= , CM000679.1:g.48245860C=	GRCh37
NC_000017.9:g.45600859C=	NCBI36
NG_008889.1:g.7495C= , LRG_203:g.7495C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.511C= MANE Select	NP_000014.1:p.Gln171=
ENST00000262018.8:c.511C= MANE Select	ENSP00000262018.3:p.Gln171=
NM_000023.2:c.511C= , LRG_203t1:c.511C=	NP_000014.1:p.Gln171=
NM_000023.3:c.511C=	NP_000014.1:p.Gln171=
NM_001135697.1:c.511C=	NP_001129169.1:p.Gln171=
NM_001135697.2:c.511C=	NP_001129169.1:p.Gln171=
NM_001135697.3:c.511C=	NP_001129169.1:p.Gln171=
NR_135553.1:n.567C=
NR_135553.2:n.547C=
ENST00000262018.7:c.511C=	ENSP00000262018.3:p.Gln171=
ENST00000344627.10:c.511C=	ENSP00000345522.6:p.Gln171=
ENST00000502555.5:c.*170C=	ENSP00000422817.1:n.*170C=
ENST00000504073.2:c.511C=	ENSP00000422030.2:p.Gln171=
ENST00000511303.5:c.232C=	ENSP00000426104.1:p.Gln78=
ENST00000511303.6:n.236C=
ENST00000512526.1:c.346C=
ENST00000512526.2:c.502C=	ENSP00000426606.2:n.502C=
ENST00000513821.5:c.511C=	ENSP00000426571.1:p.Gln171=
ENST00000513942.5:n.302C=
ENST00000514934.1:c.*217C=	ENSP00000423168.1:n.*217C=
ENST00000682109.1:c.391C=	ENSP00000508041.1:p.Gln131=
ENST00000683226.1:n.221C=
ENST00000683294.1:c.511C=	ENSP00000508134.1:p.Gln171=
XM_011525120.1:c.511C=	XP_011523422.1:p.Gln171=
XM_011525120.2:c.673C=	XP_011523422.2:p.Gln225=
XM_011525121.1:c.511C=	XP_011523423.1:p.Gln171=
XM_011525121.2:c.673C=	XP_011523423.2:p.Gln225=
XM_011525122.1:c.511C=	XP_011523424.1:p.Gln171=
XM_011525122.2:c.673C=	XP_011523424.2:p.Gln225=
XM_011525123.1:c.511C=	XP_011523425.1:p.Gln171=
XM_011525123.2:c.673C=	XP_011523425.2:p.Gln225=
XM_011525124.1:c.205C=	XP_011523426.1:p.Gln69=
XM_011525124.2:c.205C=	XP_011523426.1:p.Gln69=
XM_024450873.1:c.205C=	XP_024306641.1:p.Gln69=
XR_002958056.1:n.1029C=
XR_934517.1:n.577C=