Canonical Allele Identifier: CA245881
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 197618
dbSNP Id: rs35130237

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168409C>A , CM000679.2:g.50168409C>A GRCh38
NC_000017.10:g.48245770C>A , CM000679.1:g.48245770C>A GRCh37
NC_000017.9:g.45600769C>A NCBI36
NG_008889.1:g.7405C>A , LRG_203:g.7405C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262018.8:c.421C>A MANE Select ENSP00000262018.3:p.Arg141Ser
ENST00000262018.7:c.421C>A ENSP00000262018.3:p.Arg141Ser
ENST00000344627.10:c.421C>A ENSP00000345522.6:p.Arg141Ser
ENST00000502555.5:c.*80C>A ENSP00000422817.1:p.=
ENST00000511303.5:n.142C>A ENSP00000426104.1:p.Arg48Ser
ENST00000512526.1:n.256C>A
ENST00000513821.5:c.421C>A ENSP00000426571.1:p.Arg141Ser
ENST00000513942.5:n.212C>A
ENST00000514934.1:c.*127C>A ENSP00000423168.1:p.=
NM_000023.2:c.421C>A , LRG_203t1:c.421C>A NP_000014.1:p.Arg141Ser
NM_001135697.1:c.421C>A NP_001129169.1:p.Arg141Ser
XM_011525120.1:c.421C>A XP_011523422.1:p.Arg141Ser
XM_011525121.1:c.421C>A XP_011523423.1:p.Arg141Ser
XM_011525122.1:c.421C>A XP_011523424.1:p.Arg141Ser
XM_011525123.1:c.421C>A XP_011523425.1:p.Arg141Ser
XM_011525124.1:c.115C>A XP_011523426.1:p.Arg39Ser
XR_934517.1:n.487C>A
NM_000023.3:c.421C>A NP_000014.1:p.Arg141Ser
NM_001135697.2:c.421C>A NP_001129169.1:p.Arg141Ser
NR_135553.1:n.477C>A
XM_011525120.2:c.583C>A XP_011523422.2:p.Arg195Ser
XM_011525121.2:c.583C>A XP_011523423.2:p.Arg195Ser
XM_011525122.2:c.583C>A XP_011523424.2:p.Arg195Ser
XM_011525123.2:c.583C>A XP_011523425.2:p.Arg195Ser
XM_011525124.2:c.115C>A XP_011523426.1:p.Arg39Ser
XM_024450873.1:c.115C>A XP_024306641.1:p.Arg39Ser
XR_002958056.1:n.939C>A
NM_000023.4:c.421C>A MANE Select NP_000014.1:p.Arg141Ser
NM_001135697.3:c.421C>A NP_001129169.1:p.Arg141Ser
NR_135553.2:n.457C>A