Canonical Allele Identifier: CA387720596

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269213-G-T
• MyVariant Identifiers: chr13:g.31843350G>T (hg19) ; chr13:g.31269213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269213G>T , CM000675.2:g.31269213G>T	GRCh38
NC_000013.10:g.31843350G>T , CM000675.1:g.31843350G>T	GRCh37
NC_000013.9:g.30741350G>T	NCBI36
NG_011732.1:g.74239G>T
NG_011732.2:g.74239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.597-1G>T MANE Select	ENSP00000343002.4:n.597-1G>T
ENST00000343307.4:c.597-1G>T	ENSP00000343002.4:n.597-1G>T
ENST00000461652.2:n.212-1G>T
NM_194318.3:c.597-1G>T	NP_919299.3:n.597-1G>T
XM_006719768.2:c.540-1G>T	XP_006719831.1:n.540-1G>T
XM_011534936.1:c.597-1G>T	XP_011533238.1:n.597-1G>T
XM_011534937.1:c.597-1G>T	XP_011533239.1:n.597-1G>T
XM_011534938.1:c.450-1G>T	XP_011533240.1:n.450-1G>T
XR_941500.1:n.696-1G>T
XR_941501.1:n.696-1G>T
XM_006719768.3:c.540-1G>T	XP_006719831.1:n.540-1G>T
XM_011534938.2:c.450-1G>T	XP_011533240.1:n.450-1G>T
XM_017020395.1:c.450-1G>T	XP_016875884.1:n.450-1G>T
NM_194318.4:c.597-1G>T MANE Select	NP_919299.3:n.597-1G>T