Canonical Allele Identifier: CA500829379

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48247518G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170157G>C , CM000679.2:g.50170157G>C	GRCh38
NC_000017.10:g.48247518G>C , CM000679.1:g.48247518G>C	GRCh37
NC_000017.9:g.45602517G>C	NCBI36
NG_008889.1:g.9153G>C , LRG_203:g.9153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.612G>C	ENSP00000422030.2:p.Val204=
ENST00000511303.6:n.310-483G>C
ENST00000512526.2:c.576-483G>C	ENSP00000426606.2:n.576-483G>C
ENST00000682109.1:c.642G>C	ENSP00000508041.1:p.Val214=
ENST00000683226.1:n.1360G>C
ENST00000683294.1:c.*28G>C	ENSP00000508134.1:n.*28G>C
ENST00000683544.1:n.128G>C
ENST00000262018.8:c.762G>C MANE Select	ENSP00000262018.3:p.Val254=
ENST00000262018.7:c.762G>C	ENSP00000262018.3:p.Val254=
ENST00000344627.10:c.585-483G>C	ENSP00000345522.6:n.585-483G>C
ENST00000504073.1:c.79G>C
ENST00000511303.5:c.306-483G>C	ENSP00000426104.1:n.306-483G>C
ENST00000512526.1:c.420-483G>C
ENST00000513821.5:c.748-483G>C	ENSP00000426571.1:n.748-483G>C
ENST00000513942.5:n.376-483G>C
NM_000023.2:c.762G>C , LRG_203t1:c.762G>C	NP_000014.1:p.Val254=
NM_001135697.1:c.585-483G>C	NP_001129169.1:n.585-483G>C
XM_011525120.1:c.762G>C	XP_011523422.1:p.Val254=
XM_011525121.1:c.612G>C	XP_011523423.1:p.Val204=
XM_011525122.1:c.748-483G>C	XP_011523424.1:n.748-483G>C
XM_011525123.1:c.585-483G>C	XP_011523425.1:n.585-483G>C
XM_011525124.1:c.456G>C	XP_011523426.1:p.Val152=
XR_934517.1:n.814-483G>C
NM_000023.3:c.762G>C	NP_000014.1:p.Val254=
NM_001135697.2:c.585-483G>C	NP_001129169.1:n.585-483G>C
NR_135553.1:n.804-483G>C
XM_011525120.2:c.924G>C	XP_011523422.2:p.Val308=
XM_011525121.2:c.774G>C	XP_011523423.2:p.Val258=
XM_011525122.2:c.910-483G>C	XP_011523424.2:n.910-483G>C
XM_011525123.2:c.747-483G>C	XP_011523425.2:n.747-483G>C
XM_011525124.2:c.456G>C	XP_011523426.1:p.Val152=
XM_024450873.1:c.456G>C	XP_024306641.1:p.Val152=
XR_002958056.1:n.1359G>C
NM_000023.4:c.762G>C MANE Select	NP_000014.1:p.Val254=
NM_001135697.3:c.585-483G>C	NP_001129169.1:n.585-483G>C
NR_135553.2:n.784-483G>C