Canonical Allele Identifier: CA291536983

Gene: SGCA

Linked Data

• dbSNP Id: rs762106320
• gnomAD v2: 17-48247314-G-C
• gnomAD v3: 17-50169953-G-C
• gnomAD v4: 17-50169953-G-C
• MyVariant Identifiers: chr17:g.48247314G>C (hg19) ; chr17:g.50169953G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169953G>C , CM000679.2:g.50169953G>C	GRCh38
NC_000017.10:g.48247314G>C , CM000679.1:g.48247314G>C	GRCh37
NC_000017.9:g.45602313G>C	NCBI36
NG_008889.1:g.8949G>C , LRG_203:g.8949G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-190G>C	ENSP00000422030.2:n.598-190G>C
ENST00000511303.6:n.310-687G>C
ENST00000512526.2:c.576-687G>C	ENSP00000426606.2:n.576-687G>C
ENST00000682109.1:c.628-190G>C	ENSP00000508041.1:n.628-190G>C
ENST00000683226.1:n.1156G>C
ENST00000683294.1:c.748-111G>C	ENSP00000508134.1:n.748-111G>C
ENST00000262018.8:c.748-190G>C MANE Select	ENSP00000262018.3:n.748-190G>C
ENST00000262018.7:c.748-190G>C	ENSP00000262018.3:n.748-190G>C
ENST00000344627.10:c.585-687G>C	ENSP00000345522.6:n.585-687G>C
ENST00000502555.5:c.*1105G>C	ENSP00000422817.1:n.*1105G>C
ENST00000504073.1:c.65-190G>C
ENST00000511303.5:c.306-687G>C	ENSP00000426104.1:n.306-687G>C
ENST00000512526.1:c.420-687G>C
ENST00000513821.5:c.748-687G>C	ENSP00000426571.1:n.748-687G>C
ENST00000513942.5:n.376-687G>C
NM_000023.2:c.748-190G>C , LRG_203t1:c.748-190G>C	NP_000014.1:n.748-190G>C
NM_001135697.1:c.585-687G>C	NP_001129169.1:n.585-687G>C
XM_011525120.1:c.748-190G>C	XP_011523422.1:n.748-190G>C
XM_011525121.1:c.598-190G>C	XP_011523423.1:n.598-190G>C
XM_011525122.1:c.748-687G>C	XP_011523424.1:n.748-687G>C
XM_011525123.1:c.585-687G>C	XP_011523425.1:n.585-687G>C
XM_011525124.1:c.442-190G>C	XP_011523426.1:n.442-190G>C
XR_934517.1:n.814-687G>C
NM_000023.3:c.748-190G>C	NP_000014.1:n.748-190G>C
NM_001135697.2:c.585-687G>C	NP_001129169.1:n.585-687G>C
NR_135553.1:n.804-687G>C
XM_011525120.2:c.910-190G>C	XP_011523422.2:n.910-190G>C
XM_011525121.2:c.760-190G>C	XP_011523423.2:n.760-190G>C
XM_011525122.2:c.910-687G>C	XP_011523424.2:n.910-687G>C
XM_011525123.2:c.747-687G>C	XP_011523425.2:n.747-687G>C
XM_011525124.2:c.442-190G>C	XP_011523426.1:n.442-190G>C
XM_024450873.1:c.442-190G>C	XP_024306641.1:n.442-190G>C
XR_002958056.1:n.1266-111G>C
NM_000023.4:c.748-190G>C MANE Select	NP_000014.1:n.748-190G>C
NM_001135697.3:c.585-687G>C	NP_001129169.1:n.585-687G>C
NR_135553.2:n.784-687G>C