Canonical Allele Identifier: CA387501539
Gene: SGCG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23250640T>C , CM000675.2:g.23250640T>C GRCh38
NC_000013.10:g.23824779T>C , CM000675.1:g.23824779T>C GRCh37
NC_000013.9:g.22722779T>C NCBI36
NG_008759.1:g.74720T>C , LRG_207:g.74720T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.308T>C MANE Select ENSP00000218867.3:p.Leu103Pro
ENST00000218867.3:c.308T>C ENSP00000218867.3:p.Leu103Pro
NM_000231.2:c.308T>C , LRG_207t1:c.308T>C NP_000222.1:p.Leu103Pro
XM_005266505.2:c.308T>C XP_005266562.1:p.Leu103Pro
XM_006719861.2:c.362T>C XP_006719924.1:p.Leu121Pro
XM_006719861.3:c.362T>C XP_006719924.1:p.Leu121Pro
XM_024449397.1:c.308T>C XP_024305165.1:p.Leu103Pro
NM_000231.3:c.308T>C MANE Select NP_000222.2:p.Leu103Pro
NM_001378244.1:c.362T>C NP_001365173.1:p.Leu121Pro
NM_001378245.1:c.308T>C NP_001365174.1:p.Leu103Pro
NM_001378246.1:c.308T>C NP_001365175.1:p.Leu103Pro