Canonical Allele Identifier: CA8643797
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 287947
ClinVar RCV Id: RCV000347845
dbSNP Id: rs143551687

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168396C>T , CM000679.2:g.50168396C>T GRCh38
NC_000017.10:g.48245757C>T , CM000679.1:g.48245757C>T GRCh37
NC_000017.9:g.45600756C>T NCBI36
NG_008889.1:g.7392C>T , LRG_203:g.7392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262018.8:c.408C>T MANE Select ENSP00000262018.3:p.Ala136=
ENST00000262018.7:c.408C>T ENSP00000262018.3:p.Ala136=
ENST00000344627.10:c.408C>T ENSP00000345522.6:p.Ala136=
ENST00000502555.5:c.*67C>T ENSP00000422817.1:p.=
ENST00000511303.5:n.129C>T ENSP00000426104.1:p.Ala43=
ENST00000512526.1:n.243C>T
ENST00000513821.5:c.408C>T ENSP00000426571.1:p.Ala136=
ENST00000513942.5:n.199C>T
ENST00000514934.1:c.*114C>T ENSP00000423168.1:p.=
NM_000023.2:c.408C>T , LRG_203t1:c.408C>T NP_000014.1:p.Ala136=
NM_001135697.1:c.408C>T NP_001129169.1:p.Ala136=
XM_011525120.1:c.408C>T XP_011523422.1:p.Ala136=
XM_011525121.1:c.408C>T XP_011523423.1:p.Ala136=
XM_011525122.1:c.408C>T XP_011523424.1:p.Ala136=
XM_011525123.1:c.408C>T XP_011523425.1:p.Ala136=
XM_011525124.1:c.102C>T XP_011523426.1:p.Ala34=
XR_934517.1:n.474C>T
NM_000023.3:c.408C>T NP_000014.1:p.Ala136=
NM_001135697.2:c.408C>T NP_001129169.1:p.Ala136=
NR_135553.1:n.464C>T
XM_011525120.2:c.570C>T XP_011523422.2:p.Ala190=
XM_011525121.2:c.570C>T XP_011523423.2:p.Ala190=
XM_011525122.2:c.570C>T XP_011523424.2:p.Ala190=
XM_011525123.2:c.570C>T XP_011523425.2:p.Ala190=
XM_011525124.2:c.102C>T XP_011523426.1:p.Ala34=
XM_024450873.1:c.102C>T XP_024306641.1:p.Ala34=
XR_002958056.1:n.926C>T
NM_000023.4:c.408C>T MANE Select NP_000014.1:p.Ala136=
NM_001135697.3:c.408C>T NP_001129169.1:p.Ala136=
NR_135553.2:n.444C>T