Canonical Allele Identifier: CA2798705197

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317706C>G , CM000675.2:g.31317706C>G	GRCh38
NC_000013.10:g.31891843C>G , CM000675.1:g.31891843C>G	GRCh37
NC_000013.9:g.30789843C>G	NCBI36
NG_011732.1:g.122732C>G
NG_011732.2:g.122732C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1184+21C>G MANE Select	ENSP00000343002.4:n.1184+21C>G
ENST00000343307.4:c.1184+21C>G	ENSP00000343002.4:n.1184+21C>G
NM_194318.3:c.1184+21C>G	NP_919299.3:n.1184+21C>G
XM_006719768.2:c.1127+21C>G	XP_006719831.1:n.1127+21C>G
XM_011534936.1:c.1065-6045C>G	XP_011533238.1:n.1065-6045C>G
XM_011534937.1:c.1064+21C>G	XP_011533239.1:n.1064+21C>G
XM_011534938.1:c.1037+21C>G	XP_011533240.1:n.1037+21C>G
XM_006719768.3:c.1127+21C>G	XP_006719831.1:n.1127+21C>G
XM_011534938.2:c.1037+21C>G	XP_011533240.1:n.1037+21C>G
XM_017020395.1:c.1037+21C>G	XP_016875884.1:n.1037+21C>G
NM_194318.4:c.1184+21C>G MANE Select	NP_919299.3:n.1184+21C>G