Canonical Allele Identifier: CA387818966

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891713C>G (hg19) ; chr13:g.31317576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317576C>G , CM000675.2:g.31317576C>G	GRCh38
NC_000013.10:g.31891713C>G , CM000675.1:g.31891713C>G	GRCh37
NC_000013.9:g.30789713C>G	NCBI36
NG_011732.1:g.122602C>G
NG_011732.2:g.122602C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1075C>G MANE Select	ENSP00000343002.4:p.Leu359Val
ENST00000343307.4:c.1075C>G	ENSP00000343002.4:p.Leu359Val
NM_194318.3:c.1075C>G	NP_919299.3:p.Leu359Val
XM_006719768.2:c.1018C>G	XP_006719831.1:p.Leu340Val
XM_011534936.1:c.1065-6175C>G	XP_011533238.1:n.1065-6175C>G
XM_011534937.1:c.955C>G	XP_011533239.1:p.Leu319Val
XM_011534938.1:c.928C>G	XP_011533240.1:p.Leu310Val
XR_941500.1:n.1260C>G
XR_941501.1:n.1140C>G
XM_006719768.3:c.1018C>G	XP_006719831.1:p.Leu340Val
XM_011534938.2:c.928C>G	XP_011533240.1:p.Leu310Val
XM_017020395.1:c.928C>G	XP_016875884.1:p.Leu310Val
NM_194318.4:c.1075C>G MANE Select	NP_919299.3:p.Leu359Val