Canonical Allele Identifier: CA400181378

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247533T>A (hg19) ; chr17:g.50170172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170172T>A , CM000679.2:g.50170172T>A	GRCh38
NC_000017.10:g.48247533T>A , CM000679.1:g.48247533T>A	GRCh37
NC_000017.9:g.45602532T>A	NCBI36
NG_008889.1:g.9168T>A , LRG_203:g.9168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.627T>A	ENSP00000422030.2:p.Asp209Glu
ENST00000511303.6:n.310-468T>A
ENST00000512526.2:c.576-468T>A	ENSP00000426606.2:n.576-468T>A
ENST00000682109.1:c.657T>A	ENSP00000508041.1:p.Asp219Glu
ENST00000683226.1:n.1375T>A
ENST00000683294.1:c.*43T>A	ENSP00000508134.1:n.*43T>A
ENST00000683544.1:n.143T>A
ENST00000262018.8:c.777T>A MANE Select	ENSP00000262018.3:p.Asp259Glu
ENST00000262018.7:c.777T>A	ENSP00000262018.3:p.Asp259Glu
ENST00000344627.10:c.585-468T>A	ENSP00000345522.6:n.585-468T>A
ENST00000504073.1:c.94T>A
ENST00000511303.5:c.306-468T>A	ENSP00000426104.1:n.306-468T>A
ENST00000512526.1:c.420-468T>A
ENST00000513821.5:c.748-468T>A	ENSP00000426571.1:n.748-468T>A
ENST00000513942.5:n.376-468T>A
NM_000023.2:c.777T>A , LRG_203t1:c.777T>A	NP_000014.1:p.Asp259Glu
NM_001135697.1:c.585-468T>A	NP_001129169.1:n.585-468T>A
XM_011525120.1:c.777T>A	XP_011523422.1:p.Asp259Glu
XM_011525121.1:c.627T>A	XP_011523423.1:p.Asp209Glu
XM_011525122.1:c.748-468T>A	XP_011523424.1:n.748-468T>A
XM_011525123.1:c.585-468T>A	XP_011523425.1:n.585-468T>A
XM_011525124.1:c.471T>A	XP_011523426.1:p.Asp157Glu
XR_934517.1:n.814-468T>A
NM_000023.3:c.777T>A	NP_000014.1:p.Asp259Glu
NM_001135697.2:c.585-468T>A	NP_001129169.1:n.585-468T>A
NR_135553.1:n.804-468T>A
XM_011525120.2:c.939T>A	XP_011523422.2:p.Asp313Glu
XM_011525121.2:c.789T>A	XP_011523423.2:p.Asp263Glu
XM_011525122.2:c.910-468T>A	XP_011523424.2:n.910-468T>A
XM_011525123.2:c.747-468T>A	XP_011523425.2:n.747-468T>A
XM_011525124.2:c.471T>A	XP_011523426.1:p.Asp157Glu
XM_024450873.1:c.471T>A	XP_024306641.1:p.Asp157Glu
XR_002958056.1:n.1374T>A
NM_000023.4:c.777T>A MANE Select	NP_000014.1:p.Asp259Glu
NM_001135697.3:c.585-468T>A	NP_001129169.1:n.585-468T>A
NR_135553.2:n.784-468T>A