Canonical Allele Identifier: CA400179870

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168424-G-A
• MyVariant Identifiers: chr17:g.48245785G>A (hg19) ; chr17:g.50168424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168424G>A , CM000679.2:g.50168424G>A	GRCh38
NC_000017.10:g.48245785G>A , CM000679.1:g.48245785G>A	GRCh37
NC_000017.9:g.45600784G>A	NCBI36
NG_008889.1:g.7420G>A , LRG_203:g.7420G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.436G>A	ENSP00000422030.2:p.Glu146Lys
ENST00000511303.6:n.161G>A
ENST00000512526.2:c.427G>A	ENSP00000426606.2:n.427G>A
ENST00000682109.1:c.316G>A	ENSP00000508041.1:p.Glu106Lys
ENST00000683226.1:n.146G>A
ENST00000683294.1:c.436G>A	ENSP00000508134.1:p.Glu146Lys
ENST00000262018.8:c.436G>A MANE Select	ENSP00000262018.3:p.Glu146Lys
ENST00000262018.7:c.436G>A	ENSP00000262018.3:p.Glu146Lys
ENST00000344627.10:c.436G>A	ENSP00000345522.6:p.Glu146Lys
ENST00000502555.5:c.*95G>A	ENSP00000422817.1:n.*95G>A
ENST00000511303.5:c.157G>A	ENSP00000426104.1:p.Glu53Lys
ENST00000512526.1:c.271G>A
ENST00000513821.5:c.436G>A	ENSP00000426571.1:p.Glu146Lys
ENST00000513942.5:n.227G>A
ENST00000514934.1:c.*142G>A	ENSP00000423168.1:n.*142G>A
NM_000023.2:c.436G>A , LRG_203t1:c.436G>A	NP_000014.1:p.Glu146Lys
NM_001135697.1:c.436G>A	NP_001129169.1:p.Glu146Lys
XM_011525120.1:c.436G>A	XP_011523422.1:p.Glu146Lys
XM_011525121.1:c.436G>A	XP_011523423.1:p.Glu146Lys
XM_011525122.1:c.436G>A	XP_011523424.1:p.Glu146Lys
XM_011525123.1:c.436G>A	XP_011523425.1:p.Glu146Lys
XM_011525124.1:c.130G>A	XP_011523426.1:p.Glu44Lys
XR_934517.1:n.502G>A
NM_000023.3:c.436G>A	NP_000014.1:p.Glu146Lys
NM_001135697.2:c.436G>A	NP_001129169.1:p.Glu146Lys
NR_135553.1:n.492G>A
XM_011525120.2:c.598G>A	XP_011523422.2:p.Glu200Lys
XM_011525121.2:c.598G>A	XP_011523423.2:p.Glu200Lys
XM_011525122.2:c.598G>A	XP_011523424.2:p.Glu200Lys
XM_011525123.2:c.598G>A	XP_011523425.2:p.Glu200Lys
XM_011525124.2:c.130G>A	XP_011523426.1:p.Glu44Lys
XM_024450873.1:c.130G>A	XP_024306641.1:p.Glu44Lys
XR_002958056.1:n.954G>A
NM_000023.4:c.436G>A MANE Select	NP_000014.1:p.Glu146Lys
NM_001135697.3:c.436G>A	NP_001129169.1:p.Glu146Lys
NR_135553.2:n.472G>A