Canonical Allele Identifier: CA400178403

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167963G>T , CM000679.2:g.50167963G>T	GRCh38
NC_000017.10:g.48245324G>T , CM000679.1:g.48245324G>T	GRCh37
NC_000017.9:g.45600323G>T	NCBI36
NG_008889.1:g.6959G>T , LRG_203:g.6959G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.329G>T MANE Select	NP_000014.1:p.Arg110Leu
ENST00000262018.8:c.329G>T MANE Select	ENSP00000262018.3:p.Arg110Leu
NM_000023.2:c.329G>T , LRG_203t1:c.329G>T	NP_000014.1:p.Arg110Leu
NM_000023.3:c.329G>T	NP_000014.1:p.Arg110Leu
NM_001135697.1:c.329G>T	NP_001129169.1:p.Arg110Leu
NM_001135697.2:c.329G>T	NP_001129169.1:p.Arg110Leu
NM_001135697.3:c.329G>T	NP_001129169.1:p.Arg110Leu
NR_135553.1:n.385G>T
NR_135553.2:n.365G>T
ENST00000262018.7:c.329G>T	ENSP00000262018.3:p.Arg110Leu
ENST00000344627.10:c.329G>T	ENSP00000345522.6:p.Arg110Leu
ENST00000502555.5:c.174G>T	ENSP00000422817.1:p.Ser58=
ENST00000504073.2:c.329G>T	ENSP00000422030.2:p.Arg110Leu
ENST00000511303.5:c.50G>T	ENSP00000426104.1:p.Arg17Leu
ENST00000511303.6:n.54G>T
ENST00000512526.1:c.164G>T
ENST00000512526.2:c.320G>T	ENSP00000426606.2:p.Arg107Leu
ENST00000513821.5:c.329G>T	ENSP00000426571.1:p.Arg110Leu
ENST00000513942.5:n.120G>T
ENST00000514934.1:c.*35G>T	ENSP00000423168.1:n.*35G>T
ENST00000682109.1:c.209G>T	ENSP00000508041.1:p.Arg70Leu
ENST00000683226.1:n.39G>T
ENST00000683294.1:c.329G>T	ENSP00000508134.1:p.Arg110Leu
XM_011525120.1:c.329G>T	XP_011523422.1:p.Arg110Leu
XM_011525120.2:c.491G>T	XP_011523422.2:p.Arg164Leu
XM_011525121.1:c.329G>T	XP_011523423.1:p.Arg110Leu
XM_011525121.2:c.491G>T	XP_011523423.2:p.Arg164Leu
XM_011525122.1:c.329G>T	XP_011523424.1:p.Arg110Leu
XM_011525122.2:c.491G>T	XP_011523424.2:p.Arg164Leu
XM_011525123.1:c.329G>T	XP_011523425.1:p.Arg110Leu
XM_011525123.2:c.491G>T	XP_011523425.2:p.Arg164Leu
XM_011525124.1:c.23G>T	XP_011523426.1:p.Arg8Leu
XM_011525124.2:c.23G>T	XP_011523426.1:p.Arg8Leu
XM_024450873.1:c.23G>T	XP_024306641.1:p.Arg8Leu
XR_002958056.1:n.847G>T
XR_934517.1:n.395G>T