Canonical Allele Identifier: CA400177983

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245092A>C (hg19) ; chr17:g.50167731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167731A>C , CM000679.2:g.50167731A>C	GRCh38
NC_000017.10:g.48245092A>C , CM000679.1:g.48245092A>C	GRCh37
NC_000017.9:g.45600091A>C	NCBI36
NG_008889.1:g.6727A>C , LRG_203:g.6727A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.307A>C	ENSP00000422030.2:p.Ile103Leu
ENST00000511303.6:n.38-216A>C
ENST00000512526.2:c.303+4A>C	ENSP00000426606.2:n.303+4A>C
ENST00000682109.1:c.187A>C	ENSP00000508041.1:p.Ile63Leu
ENST00000683226.1:n.17A>C
ENST00000683294.1:c.307A>C	ENSP00000508134.1:p.Ile103Leu
ENST00000262018.8:c.307A>C MANE Select	ENSP00000262018.3:p.Ile103Leu
ENST00000262018.7:c.307A>C	ENSP00000262018.3:p.Ile103Leu
ENST00000344627.10:c.307A>C	ENSP00000345522.6:p.Ile103Leu
ENST00000502555.5:c.158-216A>C	ENSP00000422817.1:n.158-216A>C
ENST00000511303.5:c.34-216A>C	ENSP00000426104.1:n.34-216A>C
ENST00000512526.1:c.147+4A>C
ENST00000513821.5:c.307A>C	ENSP00000426571.1:p.Ile103Leu
ENST00000513942.5:n.104-216A>C
ENST00000514934.1:c.*19-216A>C	ENSP00000423168.1:n.*19-216A>C
NM_000023.2:c.307A>C , LRG_203t1:c.307A>C	NP_000014.1:p.Ile103Leu
NM_001135697.1:c.307A>C	NP_001129169.1:p.Ile103Leu
XM_011525120.1:c.307A>C	XP_011523422.1:p.Ile103Leu
XM_011525121.1:c.307A>C	XP_011523423.1:p.Ile103Leu
XM_011525122.1:c.307A>C	XP_011523424.1:p.Ile103Leu
XM_011525123.1:c.307A>C	XP_011523425.1:p.Ile103Leu
XM_011525124.1:c.7-216A>C	XP_011523426.1:n.7-216A>C
XR_934517.1:n.373A>C
NM_000023.3:c.307A>C	NP_000014.1:p.Ile103Leu
NM_001135697.2:c.307A>C	NP_001129169.1:p.Ile103Leu
NR_135553.1:n.363A>C
XM_011525120.2:c.469A>C	XP_011523422.2:p.Ile157Leu
XM_011525121.2:c.469A>C	XP_011523423.2:p.Ile157Leu
XM_011525122.2:c.469A>C	XP_011523424.2:p.Ile157Leu
XM_011525123.2:c.469A>C	XP_011523425.2:p.Ile157Leu
XM_011525124.2:c.7-216A>C	XP_011523426.1:n.7-216A>C
XM_024450873.1:c.7-216A>C	XP_024306641.1:n.7-216A>C
XR_002958056.1:n.825A>C
NM_000023.4:c.307A>C MANE Select	NP_000014.1:p.Ile103Leu
NM_001135697.3:c.307A>C	NP_001129169.1:p.Ile103Leu
NR_135553.2:n.343A>C