Canonical Allele Identifier: CA400180084
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168529C>G , CM000679.2:g.50168529C>G GRCh38
NC_000017.10:g.48245890C>G , CM000679.1:g.48245890C>G GRCh37
NC_000017.9:g.45600889C>G NCBI36
NG_008889.1:g.7525C>G , LRG_203:g.7525C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.541C>G ENSP00000422030.2:p.Arg181Gly
ENST00000511303.6:n.266C>G
ENST00000512526.2:c.532C>G ENSP00000426606.2:n.532C>G
ENST00000682109.1:c.421C>G ENSP00000508041.1:p.Arg141Gly
ENST00000683226.1:n.251C>G
ENST00000683294.1:c.541C>G ENSP00000508134.1:p.Arg181Gly
ENST00000262018.8:c.541C>G MANE Select ENSP00000262018.3:p.Arg181Gly
ENST00000262018.7:c.541C>G ENSP00000262018.3:p.Arg181Gly
ENST00000344627.10:c.541C>G ENSP00000345522.6:p.Arg181Gly
ENST00000502555.5:c.*200C>G ENSP00000422817.1:n.*200C>G
ENST00000504073.1:c.8C>G
ENST00000511303.5:c.262C>G ENSP00000426104.1:p.Arg88Gly
ENST00000512526.1:c.376C>G
ENST00000513821.5:c.541C>G ENSP00000426571.1:p.Arg181Gly
ENST00000513942.5:n.332C>G
ENST00000514934.1:c.*247C>G ENSP00000423168.1:n.*247C>G
NM_000023.2:c.541C>G , LRG_203t1:c.541C>G NP_000014.1:p.Arg181Gly
NM_001135697.1:c.541C>G NP_001129169.1:p.Arg181Gly
XM_011525120.1:c.541C>G XP_011523422.1:p.Arg181Gly
XM_011525121.1:c.541C>G XP_011523423.1:p.Arg181Gly
XM_011525122.1:c.541C>G XP_011523424.1:p.Arg181Gly
XM_011525123.1:c.541C>G XP_011523425.1:p.Arg181Gly
XM_011525124.1:c.235C>G XP_011523426.1:p.Arg79Gly
XR_934517.1:n.607C>G
NM_000023.3:c.541C>G NP_000014.1:p.Arg181Gly
NM_001135697.2:c.541C>G NP_001129169.1:p.Arg181Gly
NR_135553.1:n.597C>G
XM_011525120.2:c.703C>G XP_011523422.2:p.Arg235Gly
XM_011525121.2:c.703C>G XP_011523423.2:p.Arg235Gly
XM_011525122.2:c.703C>G XP_011523424.2:p.Arg235Gly
XM_011525123.2:c.703C>G XP_011523425.2:p.Arg235Gly
XM_011525124.2:c.235C>G XP_011523426.1:p.Arg79Gly
XM_024450873.1:c.235C>G XP_024306641.1:p.Arg79Gly
XR_002958056.1:n.1059C>G
NM_000023.4:c.541C>G MANE Select NP_000014.1:p.Arg181Gly
NM_001135697.3:c.541C>G NP_001129169.1:p.Arg181Gly
NR_135553.2:n.577C>G