Canonical Allele Identifier: CA400176375

Gene: SGCA

Linked Data

• ClinVar Variation Id: 594619
• ClinVar RCV Id: RCV000729954 ; RCV001855744
• dbSNP Id: rs759284746
• gnomAD v2: 17-48244749-G-T
• gnomAD v3: 17-50167388-G-T
• gnomAD v4: 17-50167388-G-T
• MyVariant Identifiers: chr17:g.48244749G>T (hg19) ; chr17:g.50167388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167388G>T , CM000679.2:g.50167388G>T	GRCh38
NC_000017.10:g.48244749G>T , CM000679.1:g.48244749G>T	GRCh37
NC_000017.9:g.45599748G>T	NCBI36
NG_008889.1:g.6384G>T , LRG_203:g.6384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.58G>T	ENSP00000422030.2:p.Asp20Tyr
ENST00000511303.6:n.38-559G>T
ENST00000512526.2:c.58G>T	ENSP00000426606.2:p.Asp20Tyr
ENST00000682109.1:c.38-194G>T	ENSP00000508041.1:n.38-194G>T
ENST00000683294.1:c.58G>T	ENSP00000508134.1:p.Asp20Tyr
ENST00000262018.8:c.58G>T MANE Select	ENSP00000262018.3:p.Asp20Tyr
ENST00000262018.7:c.58G>T	ENSP00000262018.3:p.Asp20Tyr
ENST00000344627.10:c.58G>T	ENSP00000345522.6:p.Asp20Tyr
ENST00000502555.5:c.58G>T	ENSP00000422817.1:p.Asp20Tyr
ENST00000511303.5:c.34-559G>T	ENSP00000426104.1:n.34-559G>T
ENST00000513821.5:c.58G>T	ENSP00000426571.1:p.Asp20Tyr
ENST00000513942.5:n.104-559G>T
ENST00000514934.1:c.117G>T	ENSP00000423168.1:p.Gly39=
NM_000023.2:c.58G>T , LRG_203t1:c.58G>T	NP_000014.1:p.Asp20Tyr
NM_001135697.1:c.58G>T	NP_001129169.1:p.Asp20Tyr
XM_011525120.1:c.58G>T	XP_011523422.1:p.Asp20Tyr
XM_011525121.1:c.58G>T	XP_011523423.1:p.Asp20Tyr
XM_011525122.1:c.58G>T	XP_011523424.1:p.Asp20Tyr
XM_011525123.1:c.58G>T	XP_011523425.1:p.Asp20Tyr
XM_011525124.1:c.-94G>T	XP_011523426.1:n.-94G>T
XR_934517.1:n.124G>T
NM_000023.3:c.58G>T	NP_000014.1:p.Asp20Tyr
NM_001135697.2:c.58G>T	NP_001129169.1:p.Asp20Tyr
NR_135553.1:n.114G>T
XM_011525120.2:c.220G>T	XP_011523422.2:p.Asp74Tyr
XM_011525121.2:c.220G>T	XP_011523423.2:p.Asp74Tyr
XM_011525122.2:c.220G>T	XP_011523424.2:p.Asp74Tyr
XM_011525123.2:c.220G>T	XP_011523425.2:p.Asp74Tyr
XM_011525124.2:c.-94G>T	XP_011523426.1:n.-94G>T
XM_024450873.1:c.-94G>T	XP_024306641.1:n.-94G>T
XR_002958056.1:n.576G>T
NM_000023.4:c.58G>T MANE Select	NP_000014.1:p.Asp20Tyr
NM_001135697.3:c.58G>T	NP_001129169.1:p.Asp20Tyr
NR_135553.2:n.94G>T