Canonical Allele Identifier: CA387720668

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269228-T-G
• MyVariant Identifiers: chr13:g.31843365T>G (hg19) ; chr13:g.31269228T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269228T>G , CM000675.2:g.31269228T>G	GRCh38
NC_000013.10:g.31843365T>G , CM000675.1:g.31843365T>G	GRCh37
NC_000013.9:g.30741365T>G	NCBI36
NG_011732.1:g.74254T>G
NG_011732.2:g.74254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.611T>G MANE Select	ENSP00000343002.4:p.Leu204Arg
ENST00000343307.4:c.611T>G	ENSP00000343002.4:p.Leu204Arg
ENST00000461652.2:n.226T>G
NM_194318.3:c.611T>G	NP_919299.3:p.Leu204Arg
XM_006719768.2:c.554T>G	XP_006719831.1:p.Leu185Arg
XM_011534936.1:c.611T>G	XP_011533238.1:p.Leu204Arg
XM_011534937.1:c.611T>G	XP_011533239.1:p.Leu204Arg
XM_011534938.1:c.464T>G	XP_011533240.1:p.Leu155Arg
XR_941500.1:n.710T>G
XR_941501.1:n.710T>G
XM_006719768.3:c.554T>G	XP_006719831.1:p.Leu185Arg
XM_011534938.2:c.464T>G	XP_011533240.1:p.Leu155Arg
XM_017020395.1:c.464T>G	XP_016875884.1:p.Leu155Arg
NM_194318.4:c.611T>G MANE Select	NP_919299.3:p.Leu204Arg