Canonical Allele Identifier: CA387501547

Gene: SGCG

Linked Data

• gnomAD v4: 13-23250645-C-A
• MyVariant Identifiers: chr13:g.23824784C>A (hg19) ; chr13:g.23250645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250645C>A , CM000675.2:g.23250645C>A	GRCh38
NC_000013.10:g.23824784C>A , CM000675.1:g.23824784C>A	GRCh37
NC_000013.9:g.22722784C>A	NCBI36
NG_008759.1:g.74725C>A , LRG_207:g.74725C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.313C>A MANE Select	ENSP00000218867.3:p.Leu105Ile
ENST00000218867.3:c.313C>A	ENSP00000218867.3:p.Leu105Ile
NM_000231.2:c.313C>A , LRG_207t1:c.313C>A	NP_000222.1:p.Leu105Ile
XM_005266505.2:c.313C>A	XP_005266562.1:p.Leu105Ile
XM_006719861.2:c.367C>A	XP_006719924.1:p.Leu123Ile
XM_006719861.3:c.367C>A	XP_006719924.1:p.Leu123Ile
XM_024449397.1:c.313C>A	XP_024305165.1:p.Leu105Ile
NM_000231.3:c.313C>A MANE Select	NP_000222.2:p.Leu105Ile
NM_001378244.1:c.367C>A	NP_001365173.1:p.Leu123Ile
NM_001378245.1:c.313C>A	NP_001365174.1:p.Leu105Ile
NM_001378246.1:c.313C>A	NP_001365175.1:p.Leu105Ile