Canonical Allele Identifier: CA2263905381

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167971T= , CM000679.2:g.50167971T=	GRCh38
NC_000017.10:g.48245332T= , CM000679.1:g.48245332T=	GRCh37
NC_000017.9:g.45600331T=	NCBI36
NG_008889.1:g.6967T= , LRG_203:g.6967T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.337T=	ENSP00000422030.2:p.Phe113=
ENST00000511303.6:n.62T=
ENST00000512526.2:c.328T=	ENSP00000426606.2:p.Phe110=
ENST00000682109.1:c.217T=	ENSP00000508041.1:p.Phe73=
ENST00000683226.1:n.47T=
ENST00000683294.1:c.337T=	ENSP00000508134.1:p.Phe113=
ENST00000262018.8:c.337T= MANE Select	ENSP00000262018.3:p.Phe113=
ENST00000262018.7:c.337T=	ENSP00000262018.3:p.Phe113=
ENST00000344627.10:c.337T=	ENSP00000345522.6:p.Phe113=
ENST00000502555.5:c.182T=	ENSP00000422817.1:p.Leu61=
ENST00000511303.5:c.58T=	ENSP00000426104.1:p.Phe20=
ENST00000512526.1:c.172T=
ENST00000513821.5:c.337T=	ENSP00000426571.1:p.Phe113=
ENST00000513942.5:n.128T=
ENST00000514934.1:c.*43T=	ENSP00000423168.1:n.*43T=
NM_000023.2:c.337T= , LRG_203t1:c.337T=	NP_000014.1:p.Phe113=
NM_001135697.1:c.337T=	NP_001129169.1:p.Phe113=
XM_011525120.1:c.337T=	XP_011523422.1:p.Phe113=
XM_011525121.1:c.337T=	XP_011523423.1:p.Phe113=
XM_011525122.1:c.337T=	XP_011523424.1:p.Phe113=
XM_011525123.1:c.337T=	XP_011523425.1:p.Phe113=
XM_011525124.1:c.31T=	XP_011523426.1:p.Phe11=
XR_934517.1:n.403T=
NM_000023.3:c.337T=	NP_000014.1:p.Phe113=
NM_001135697.2:c.337T=	NP_001129169.1:p.Phe113=
NR_135553.1:n.393T=
XM_011525120.2:c.499T=	XP_011523422.2:p.Phe167=
XM_011525121.2:c.499T=	XP_011523423.2:p.Phe167=
XM_011525122.2:c.499T=	XP_011523424.2:p.Phe167=
XM_011525123.2:c.499T=	XP_011523425.2:p.Phe167=
XM_011525124.2:c.31T=	XP_011523426.1:p.Phe11=
XM_024450873.1:c.31T=	XP_024306641.1:p.Phe11=
XR_002958056.1:n.855T=
NM_000023.4:c.337T= MANE Select	NP_000014.1:p.Phe113=
NM_001135697.3:c.337T=	NP_001129169.1:p.Phe113=
NR_135553.2:n.373T=