Canonical Allele Identifier: CA500828407
Gene: SGCA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48245769G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168408G>C , CM000679.2:g.50168408G>C GRCh38
NC_000017.10:g.48245769G>C , CM000679.1:g.48245769G>C GRCh37
NC_000017.9:g.45600768G>C NCBI36
NG_008889.1:g.7404G>C , LRG_203:g.7404G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.420G>C ENSP00000422030.2:p.Val140=
ENST00000511303.6:n.145G>C
ENST00000512526.2:c.411G>C ENSP00000426606.2:n.411G>C
ENST00000682109.1:c.300G>C ENSP00000508041.1:p.Val100=
ENST00000683226.1:n.130G>C
ENST00000683294.1:c.420G>C ENSP00000508134.1:p.Val140=
ENST00000262018.8:c.420G>C MANE Select ENSP00000262018.3:p.Val140=
ENST00000262018.7:c.420G>C ENSP00000262018.3:p.Val140=
ENST00000344627.10:c.420G>C ENSP00000345522.6:p.Val140=
ENST00000502555.5:c.*79G>C ENSP00000422817.1:n.*79G>C
ENST00000511303.5:c.141G>C ENSP00000426104.1:p.Val47=
ENST00000512526.1:c.255G>C
ENST00000513821.5:c.420G>C ENSP00000426571.1:p.Val140=
ENST00000513942.5:n.211G>C
ENST00000514934.1:c.*126G>C ENSP00000423168.1:n.*126G>C
NM_000023.2:c.420G>C , LRG_203t1:c.420G>C NP_000014.1:p.Val140=
NM_001135697.1:c.420G>C NP_001129169.1:p.Val140=
XM_011525120.1:c.420G>C XP_011523422.1:p.Val140=
XM_011525121.1:c.420G>C XP_011523423.1:p.Val140=
XM_011525122.1:c.420G>C XP_011523424.1:p.Val140=
XM_011525123.1:c.420G>C XP_011523425.1:p.Val140=
XM_011525124.1:c.114G>C XP_011523426.1:p.Val38=
XR_934517.1:n.486G>C
NM_000023.3:c.420G>C NP_000014.1:p.Val140=
NM_001135697.2:c.420G>C NP_001129169.1:p.Val140=
NR_135553.1:n.476G>C
XM_011525120.2:c.582G>C XP_011523422.2:p.Val194=
XM_011525121.2:c.582G>C XP_011523423.2:p.Val194=
XM_011525122.2:c.582G>C XP_011523424.2:p.Val194=
XM_011525123.2:c.582G>C XP_011523425.2:p.Val194=
XM_011525124.2:c.114G>C XP_011523426.1:p.Val38=
XM_024450873.1:c.114G>C XP_024306641.1:p.Val38=
XR_002958056.1:n.938G>C
NM_000023.4:c.420G>C MANE Select NP_000014.1:p.Val140=
NM_001135697.3:c.420G>C NP_001129169.1:p.Val140=
NR_135553.2:n.456G>C