Canonical Allele Identifier: CA500828392

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168399-G-A
• MyVariant Identifiers: chr17:g.48245760G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168399G>A , CM000679.2:g.50168399G>A	GRCh38
NC_000017.10:g.48245760G>A , CM000679.1:g.48245760G>A	GRCh37
NC_000017.9:g.45600759G>A	NCBI36
NG_008889.1:g.7395G>A , LRG_203:g.7395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.411G>A	ENSP00000422030.2:p.Glu137=
ENST00000511303.6:n.136G>A
ENST00000512526.2:c.402G>A	ENSP00000426606.2:n.402G>A
ENST00000682109.1:c.291G>A	ENSP00000508041.1:p.Glu97=
ENST00000683226.1:n.121G>A
ENST00000683294.1:c.411G>A	ENSP00000508134.1:p.Glu137=
ENST00000262018.8:c.411G>A MANE Select	ENSP00000262018.3:p.Glu137=
ENST00000262018.7:c.411G>A	ENSP00000262018.3:p.Glu137=
ENST00000344627.10:c.411G>A	ENSP00000345522.6:p.Glu137=
ENST00000502555.5:c.*70G>A	ENSP00000422817.1:n.*70G>A
ENST00000511303.5:c.132G>A	ENSP00000426104.1:p.Glu44=
ENST00000512526.1:c.246G>A
ENST00000513821.5:c.411G>A	ENSP00000426571.1:p.Glu137=
ENST00000513942.5:n.202G>A
ENST00000514934.1:c.*117G>A	ENSP00000423168.1:n.*117G>A
NM_000023.2:c.411G>A , LRG_203t1:c.411G>A	NP_000014.1:p.Glu137=
NM_001135697.1:c.411G>A	NP_001129169.1:p.Glu137=
XM_011525120.1:c.411G>A	XP_011523422.1:p.Glu137=
XM_011525121.1:c.411G>A	XP_011523423.1:p.Glu137=
XM_011525122.1:c.411G>A	XP_011523424.1:p.Glu137=
XM_011525123.1:c.411G>A	XP_011523425.1:p.Glu137=
XM_011525124.1:c.105G>A	XP_011523426.1:p.Glu35=
XR_934517.1:n.477G>A
NM_000023.3:c.411G>A	NP_000014.1:p.Glu137=
NM_001135697.2:c.411G>A	NP_001129169.1:p.Glu137=
NR_135553.1:n.467G>A
XM_011525120.2:c.573G>A	XP_011523422.2:p.Glu191=
XM_011525121.2:c.573G>A	XP_011523423.2:p.Glu191=
XM_011525122.2:c.573G>A	XP_011523424.2:p.Glu191=
XM_011525123.2:c.573G>A	XP_011523425.2:p.Glu191=
XM_011525124.2:c.105G>A	XP_011523426.1:p.Glu35=
XM_024450873.1:c.105G>A	XP_024306641.1:p.Glu35=
XR_002958056.1:n.929G>A
NM_000023.4:c.411G>A MANE Select	NP_000014.1:p.Glu137=
NM_001135697.3:c.411G>A	NP_001129169.1:p.Glu137=
NR_135553.2:n.447G>A