Canonical Allele Identifier: CA954620741

Gene: B3GLCT

Linked Data

• dbSNP Id: rs1875103190
• gnomAD v3: 13-31317510-T-C
• gnomAD v4: 13-31317510-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317510T>C , CM000675.2:g.31317510T>C	GRCh38
NC_000013.10:g.31891647T>C , CM000675.1:g.31891647T>C	GRCh37
NC_000013.9:g.30789647T>C	NCBI36
NG_011732.1:g.122536T>C
NG_011732.2:g.122536T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1065-56T>C MANE Select	ENSP00000343002.4:n.1065-56T>C
ENST00000343307.4:c.1065-56T>C	ENSP00000343002.4:n.1065-56T>C
NM_194318.3:c.1065-56T>C	NP_919299.3:n.1065-56T>C
XM_006719768.2:c.1008-56T>C	XP_006719831.1:n.1008-56T>C
XM_011534936.1:c.1065-6241T>C	XP_011533238.1:n.1065-6241T>C
XM_011534937.1:c.945-56T>C	XP_011533239.1:n.945-56T>C
XM_011534938.1:c.918-56T>C	XP_011533240.1:n.918-56T>C
XR_941500.1:n.1250-56T>C
XR_941501.1:n.1130-56T>C
XM_006719768.3:c.1008-56T>C	XP_006719831.1:n.1008-56T>C
XM_011534938.2:c.918-56T>C	XP_011533240.1:n.918-56T>C
XM_017020395.1:c.918-56T>C	XP_016875884.1:n.918-56T>C
NM_194318.4:c.1065-56T>C MANE Select	NP_919299.3:n.1065-56T>C