Canonical Allele Identifier: CA2622576150

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31317702-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317702C>T , CM000675.2:g.31317702C>T	GRCh38
NC_000013.10:g.31891839C>T , CM000675.1:g.31891839C>T	GRCh37
NC_000013.9:g.30789839C>T	NCBI36
NG_011732.1:g.122728C>T
NG_011732.2:g.122728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1184+17C>T MANE Select	ENSP00000343002.4:n.1184+17C>T
ENST00000343307.4:c.1184+17C>T	ENSP00000343002.4:n.1184+17C>T
NM_194318.3:c.1184+17C>T	NP_919299.3:n.1184+17C>T
XM_006719768.2:c.1127+17C>T	XP_006719831.1:n.1127+17C>T
XM_011534936.1:c.1065-6049C>T	XP_011533238.1:n.1065-6049C>T
XM_011534937.1:c.1064+17C>T	XP_011533239.1:n.1064+17C>T
XM_011534938.1:c.1037+17C>T	XP_011533240.1:n.1037+17C>T
XM_006719768.3:c.1127+17C>T	XP_006719831.1:n.1127+17C>T
XM_011534938.2:c.1037+17C>T	XP_011533240.1:n.1037+17C>T
XM_017020395.1:c.1037+17C>T	XP_016875884.1:n.1037+17C>T
NM_194318.4:c.1184+17C>T MANE Select	NP_919299.3:n.1184+17C>T