Canonical Allele Identifier: CA247891643

Gene: B3GLCT

Linked Data

• dbSNP Id: rs974430668
• gnomAD v4: 13-31317488-G-A
• MyVariant Identifiers: chr13:g.31891625G>A (hg19) ; chr13:g.31317488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317488G>A , CM000675.2:g.31317488G>A	GRCh38
NC_000013.10:g.31891625G>A , CM000675.1:g.31891625G>A	GRCh37
NC_000013.9:g.30789625G>A	NCBI36
NG_011732.1:g.122514G>A
NG_011732.2:g.122514G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1065-78G>A MANE Select	ENSP00000343002.4:n.1065-78G>A
ENST00000343307.4:c.1065-78G>A	ENSP00000343002.4:n.1065-78G>A
NM_194318.3:c.1065-78G>A	NP_919299.3:n.1065-78G>A
XM_006719768.2:c.1008-78G>A	XP_006719831.1:n.1008-78G>A
XM_011534936.1:c.1065-6263G>A	XP_011533238.1:n.1065-6263G>A
XM_011534937.1:c.945-78G>A	XP_011533239.1:n.945-78G>A
XM_011534938.1:c.918-78G>A	XP_011533240.1:n.918-78G>A
XR_941500.1:n.1250-78G>A
XR_941501.1:n.1130-78G>A
XM_006719768.3:c.1008-78G>A	XP_006719831.1:n.1008-78G>A
XM_011534938.2:c.918-78G>A	XP_011533240.1:n.918-78G>A
XM_017020395.1:c.918-78G>A	XP_016875884.1:n.918-78G>A
NM_194318.4:c.1065-78G>A MANE Select	NP_919299.3:n.1065-78G>A