Canonical Allele Identifier: CA482918430
Gene: SGCG HGNC NCBI

Linked Data

ClinVar Variation Id: 2859016
ClinVar RCV Id: RCV003605036
MyVariant Identifiers: chr13:g.23824852A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23250713A>G , CM000675.2:g.23250713A>G GRCh38
NC_000013.10:g.23824852A>G , CM000675.1:g.23824852A>G GRCh37
NC_000013.9:g.22722852A>G NCBI36
NG_008759.1:g.74793A>G , LRG_207:g.74793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.381A>G MANE Select ENSP00000218867.3:p.Lys127=
ENST00000218867.3:c.381A>G ENSP00000218867.3:p.Lys127=
NM_000231.2:c.381A>G , LRG_207t1:c.381A>G NP_000222.1:p.Lys127=
XM_005266505.2:c.381A>G XP_005266562.1:p.Lys127=
XM_006719861.2:c.435A>G XP_006719924.1:p.Lys145=
XM_006719861.3:c.435A>G XP_006719924.1:p.Lys145=
XM_024449397.1:c.381A>G XP_024305165.1:p.Lys127=
NM_000231.3:c.381A>G MANE Select NP_000222.2:p.Lys127=
NM_001378244.1:c.435A>G NP_001365173.1:p.Lys145=
NM_001378245.1:c.381A>G NP_001365174.1:p.Lys127=
NM_001378246.1:c.381A>G NP_001365175.1:p.Lys127=