Canonical Allele Identifier: CA400179967

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245833G>C (hg19) ; chr17:g.50168472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168472G>C , CM000679.2:g.50168472G>C	GRCh38
NC_000017.10:g.48245833G>C , CM000679.1:g.48245833G>C	GRCh37
NC_000017.9:g.45600832G>C	NCBI36
NG_008889.1:g.7468G>C , LRG_203:g.7468G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.484G>C	ENSP00000422030.2:p.Gly162Arg
ENST00000511303.6:n.209G>C
ENST00000512526.2:c.475G>C	ENSP00000426606.2:n.475G>C
ENST00000682109.1:c.364G>C	ENSP00000508041.1:p.Gly122Arg
ENST00000683226.1:n.194G>C
ENST00000683294.1:c.484G>C	ENSP00000508134.1:p.Gly162Arg
ENST00000262018.8:c.484G>C MANE Select	ENSP00000262018.3:p.Gly162Arg
ENST00000262018.7:c.484G>C	ENSP00000262018.3:p.Gly162Arg
ENST00000344627.10:c.484G>C	ENSP00000345522.6:p.Gly162Arg
ENST00000502555.5:c.*143G>C	ENSP00000422817.1:n.*143G>C
ENST00000511303.5:c.205G>C	ENSP00000426104.1:p.Gly69Arg
ENST00000512526.1:c.319G>C
ENST00000513821.5:c.484G>C	ENSP00000426571.1:p.Gly162Arg
ENST00000513942.5:n.275G>C
ENST00000514934.1:c.*190G>C	ENSP00000423168.1:n.*190G>C
NM_000023.2:c.484G>C , LRG_203t1:c.484G>C	NP_000014.1:p.Gly162Arg
NM_001135697.1:c.484G>C	NP_001129169.1:p.Gly162Arg
XM_011525120.1:c.484G>C	XP_011523422.1:p.Gly162Arg
XM_011525121.1:c.484G>C	XP_011523423.1:p.Gly162Arg
XM_011525122.1:c.484G>C	XP_011523424.1:p.Gly162Arg
XM_011525123.1:c.484G>C	XP_011523425.1:p.Gly162Arg
XM_011525124.1:c.178G>C	XP_011523426.1:p.Gly60Arg
XR_934517.1:n.550G>C
NM_000023.3:c.484G>C	NP_000014.1:p.Gly162Arg
NM_001135697.2:c.484G>C	NP_001129169.1:p.Gly162Arg
NR_135553.1:n.540G>C
XM_011525120.2:c.646G>C	XP_011523422.2:p.Gly216Arg
XM_011525121.2:c.646G>C	XP_011523423.2:p.Gly216Arg
XM_011525122.2:c.646G>C	XP_011523424.2:p.Gly216Arg
XM_011525123.2:c.646G>C	XP_011523425.2:p.Gly216Arg
XM_011525124.2:c.178G>C	XP_011523426.1:p.Gly60Arg
XM_024450873.1:c.178G>C	XP_024306641.1:p.Gly60Arg
XR_002958056.1:n.1002G>C
NM_000023.4:c.484G>C MANE Select	NP_000014.1:p.Gly162Arg
NM_001135697.3:c.484G>C	NP_001129169.1:p.Gly162Arg
NR_135553.2:n.520G>C