Canonical Allele Identifier: CA400180122
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168553A>G , CM000679.2:g.50168553A>G GRCh38
NC_000017.10:g.48245914A>G , CM000679.1:g.48245914A>G GRCh37
NC_000017.9:g.45600913A>G NCBI36
NG_008889.1:g.7549A>G , LRG_203:g.7549A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.565A>G ENSP00000422030.2:p.Ile189Val
ENST00000511303.6:n.290A>G
ENST00000512526.2:c.556A>G ENSP00000426606.2:n.556A>G
ENST00000682109.1:c.445A>G ENSP00000508041.1:p.Ile149Val
ENST00000683226.1:n.275A>G
ENST00000683294.1:c.565A>G ENSP00000508134.1:p.Ile189Val
ENST00000262018.8:c.565A>G MANE Select ENSP00000262018.3:p.Ile189Val
ENST00000262018.7:c.565A>G ENSP00000262018.3:p.Ile189Val
ENST00000344627.10:c.565A>G ENSP00000345522.6:p.Ile189Val
ENST00000502555.5:c.*224A>G ENSP00000422817.1:n.*224A>G
ENST00000504073.1:c.32A>G
ENST00000511303.5:c.286A>G ENSP00000426104.1:p.Ile96Val
ENST00000512526.1:c.400A>G
ENST00000513821.5:c.565A>G ENSP00000426571.1:p.Ile189Val
ENST00000513942.5:n.356A>G
ENST00000514934.1:c.*271A>G ENSP00000423168.1:n.*271A>G
NM_000023.2:c.565A>G , LRG_203t1:c.565A>G NP_000014.1:p.Ile189Val
NM_001135697.1:c.565A>G NP_001129169.1:p.Ile189Val
XM_011525120.1:c.565A>G XP_011523422.1:p.Ile189Val
XM_011525121.1:c.565A>G XP_011523423.1:p.Ile189Val
XM_011525122.1:c.565A>G XP_011523424.1:p.Ile189Val
XM_011525123.1:c.565A>G XP_011523425.1:p.Ile189Val
XM_011525124.1:c.259A>G XP_011523426.1:p.Ile87Val
XR_934517.1:n.631A>G
NM_000023.3:c.565A>G NP_000014.1:p.Ile189Val
NM_001135697.2:c.565A>G NP_001129169.1:p.Ile189Val
NR_135553.1:n.621A>G
XM_011525120.2:c.727A>G XP_011523422.2:p.Ile243Val
XM_011525121.2:c.727A>G XP_011523423.2:p.Ile243Val
XM_011525122.2:c.727A>G XP_011523424.2:p.Ile243Val
XM_011525123.2:c.727A>G XP_011523425.2:p.Ile243Val
XM_011525124.2:c.259A>G XP_011523426.1:p.Ile87Val
XM_024450873.1:c.259A>G XP_024306641.1:p.Ile87Val
XR_002958056.1:n.1083A>G
NM_000023.4:c.565A>G MANE Select NP_000014.1:p.Ile189Val
NM_001135697.3:c.565A>G NP_001129169.1:p.Ile189Val
NR_135553.2:n.601A>G