Canonical Allele Identifier: CA500828506

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168489-C-A
• MyVariant Identifiers: chr17:g.48245850C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168489C>A , CM000679.2:g.50168489C>A	GRCh38
NC_000017.10:g.48245850C>A , CM000679.1:g.48245850C>A	GRCh37
NC_000017.9:g.45600849C>A	NCBI36
NG_008889.1:g.7485C>A , LRG_203:g.7485C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.501C>A	ENSP00000422030.2:p.Pro167=
ENST00000511303.6:n.226C>A
ENST00000512526.2:c.492C>A	ENSP00000426606.2:n.492C>A
ENST00000682109.1:c.381C>A	ENSP00000508041.1:p.Pro127=
ENST00000683226.1:n.211C>A
ENST00000683294.1:c.501C>A	ENSP00000508134.1:p.Pro167=
ENST00000262018.8:c.501C>A MANE Select	ENSP00000262018.3:p.Pro167=
ENST00000262018.7:c.501C>A	ENSP00000262018.3:p.Pro167=
ENST00000344627.10:c.501C>A	ENSP00000345522.6:p.Pro167=
ENST00000502555.5:c.*160C>A	ENSP00000422817.1:n.*160C>A
ENST00000511303.5:c.222C>A	ENSP00000426104.1:p.Pro74=
ENST00000512526.1:c.336C>A
ENST00000513821.5:c.501C>A	ENSP00000426571.1:p.Pro167=
ENST00000513942.5:n.292C>A
ENST00000514934.1:c.*207C>A	ENSP00000423168.1:n.*207C>A
NM_000023.2:c.501C>A , LRG_203t1:c.501C>A	NP_000014.1:p.Pro167=
NM_001135697.1:c.501C>A	NP_001129169.1:p.Pro167=
XM_011525120.1:c.501C>A	XP_011523422.1:p.Pro167=
XM_011525121.1:c.501C>A	XP_011523423.1:p.Pro167=
XM_011525122.1:c.501C>A	XP_011523424.1:p.Pro167=
XM_011525123.1:c.501C>A	XP_011523425.1:p.Pro167=
XM_011525124.1:c.195C>A	XP_011523426.1:p.Pro65=
XR_934517.1:n.567C>A
NM_000023.3:c.501C>A	NP_000014.1:p.Pro167=
NM_001135697.2:c.501C>A	NP_001129169.1:p.Pro167=
NR_135553.1:n.557C>A
XM_011525120.2:c.663C>A	XP_011523422.2:p.Pro221=
XM_011525121.2:c.663C>A	XP_011523423.2:p.Pro221=
XM_011525122.2:c.663C>A	XP_011523424.2:p.Pro221=
XM_011525123.2:c.663C>A	XP_011523425.2:p.Pro221=
XM_011525124.2:c.195C>A	XP_011523426.1:p.Pro65=
XM_024450873.1:c.195C>A	XP_024306641.1:p.Pro65=
XR_002958056.1:n.1019C>A
NM_000023.4:c.501C>A MANE Select	NP_000014.1:p.Pro167=
NM_001135697.3:c.501C>A	NP_001129169.1:p.Pro167=
NR_135553.2:n.537C>A