Canonical Allele Identifier: CA387501551
Gene: SGCG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23250646T>G , CM000675.2:g.23250646T>G GRCh38
NC_000013.10:g.23824785T>G , CM000675.1:g.23824785T>G GRCh37
NC_000013.9:g.22722785T>G NCBI36
NG_008759.1:g.74726T>G , LRG_207:g.74726T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.314T>G MANE Select ENSP00000218867.3:p.Leu105Arg
ENST00000218867.3:c.314T>G ENSP00000218867.3:p.Leu105Arg
NM_000231.2:c.314T>G , LRG_207t1:c.314T>G NP_000222.1:p.Leu105Arg
XM_005266505.2:c.314T>G XP_005266562.1:p.Leu105Arg
XM_006719861.2:c.368T>G XP_006719924.1:p.Leu123Arg
XM_006719861.3:c.368T>G XP_006719924.1:p.Leu123Arg
XM_024449397.1:c.314T>G XP_024305165.1:p.Leu105Arg
NM_000231.3:c.314T>G MANE Select NP_000222.2:p.Leu105Arg
NM_001378244.1:c.368T>G NP_001365173.1:p.Leu123Arg
NM_001378245.1:c.314T>G NP_001365174.1:p.Leu105Arg
NM_001378246.1:c.314T>G NP_001365175.1:p.Leu105Arg