Canonical Allele Identifier: CA2622576130

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31317511-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317511C>T , CM000675.2:g.31317511C>T	GRCh38
NC_000013.10:g.31891648C>T , CM000675.1:g.31891648C>T	GRCh37
NC_000013.9:g.30789648C>T	NCBI36
NG_011732.1:g.122537C>T
NG_011732.2:g.122537C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1065-55C>T MANE Select	ENSP00000343002.4:n.1065-55C>T
ENST00000343307.4:c.1065-55C>T	ENSP00000343002.4:n.1065-55C>T
NM_194318.3:c.1065-55C>T	NP_919299.3:n.1065-55C>T
XM_006719768.2:c.1008-55C>T	XP_006719831.1:n.1008-55C>T
XM_011534936.1:c.1065-6240C>T	XP_011533238.1:n.1065-6240C>T
XM_011534937.1:c.945-55C>T	XP_011533239.1:n.945-55C>T
XM_011534938.1:c.918-55C>T	XP_011533240.1:n.918-55C>T
XR_941500.1:n.1250-55C>T
XR_941501.1:n.1130-55C>T
XM_006719768.3:c.1008-55C>T	XP_006719831.1:n.1008-55C>T
XM_011534938.2:c.918-55C>T	XP_011533240.1:n.918-55C>T
XM_017020395.1:c.918-55C>T	XP_016875884.1:n.918-55C>T
NM_194318.4:c.1065-55C>T MANE Select	NP_919299.3:n.1065-55C>T