Canonical Allele Identifier: CA626689203

Gene: SGCA

Linked Data

• dbSNP Id: rs547080329
• gnomAD v2: 17-48245130-G-T
• gnomAD v4: 17-50167769-G-T
• MyVariant Identifiers: chr17:g.48245130G>T (hg19) ; chr17:g.50167769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167769G>T , CM000679.2:g.50167769G>T	GRCh38
NC_000017.10:g.48245130G>T , CM000679.1:g.48245130G>T	GRCh37
NC_000017.9:g.45600129G>T	NCBI36
NG_008889.1:g.6765G>T , LRG_203:g.6765G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.312+33G>T	ENSP00000422030.2:n.312+33G>T
ENST00000511303.6:n.38-178G>T
ENST00000512526.2:c.303+42G>T	ENSP00000426606.2:n.303+42G>T
ENST00000682109.1:c.192+33G>T	ENSP00000508041.1:n.192+33G>T
ENST00000683226.1:n.22+33G>T
ENST00000683294.1:c.312+33G>T	ENSP00000508134.1:n.312+33G>T
ENST00000262018.8:c.312+33G>T MANE Select	ENSP00000262018.3:n.312+33G>T
ENST00000262018.7:c.312+33G>T	ENSP00000262018.3:n.312+33G>T
ENST00000344627.10:c.312+33G>T	ENSP00000345522.6:n.312+33G>T
ENST00000502555.5:c.158-178G>T	ENSP00000422817.1:n.158-178G>T
ENST00000511303.5:c.34-178G>T	ENSP00000426104.1:n.34-178G>T
ENST00000512526.1:c.147+42G>T
ENST00000513821.5:c.312+33G>T	ENSP00000426571.1:n.312+33G>T
ENST00000513942.5:n.104-178G>T
ENST00000514934.1:c.*19-178G>T	ENSP00000423168.1:n.*19-178G>T
NM_000023.2:c.312+33G>T , LRG_203t1:c.312+33G>T	NP_000014.1:n.312+33G>T
NM_001135697.1:c.312+33G>T	NP_001129169.1:n.312+33G>T
XM_011525120.1:c.312+33G>T	XP_011523422.1:n.312+33G>T
XM_011525121.1:c.312+33G>T	XP_011523423.1:n.312+33G>T
XM_011525122.1:c.312+33G>T	XP_011523424.1:n.312+33G>T
XM_011525123.1:c.312+33G>T	XP_011523425.1:n.312+33G>T
XM_011525124.1:c.7-178G>T	XP_011523426.1:n.7-178G>T
XR_934517.1:n.378+33G>T
NM_000023.3:c.312+33G>T	NP_000014.1:n.312+33G>T
NM_001135697.2:c.312+33G>T	NP_001129169.1:n.312+33G>T
NR_135553.1:n.368+33G>T
XM_011525120.2:c.474+33G>T	XP_011523422.2:n.474+33G>T
XM_011525121.2:c.474+33G>T	XP_011523423.2:n.474+33G>T
XM_011525122.2:c.474+33G>T	XP_011523424.2:n.474+33G>T
XM_011525123.2:c.474+33G>T	XP_011523425.2:n.474+33G>T
XM_011525124.2:c.7-178G>T	XP_011523426.1:n.7-178G>T
XM_024450873.1:c.7-178G>T	XP_024306641.1:n.7-178G>T
XR_002958056.1:n.830+33G>T
NM_000023.4:c.312+33G>T MANE Select	NP_000014.1:n.312+33G>T
NM_001135697.3:c.312+33G>T	NP_001129169.1:n.312+33G>T
NR_135553.2:n.348+33G>T