Canonical Allele Identifier: CA247891662

Gene: B3GLCT

Linked Data

• dbSNP Id: rs373560390
• gnomAD v4: 13-31317714-A-G
• MyVariant Identifiers: chr13:g.31891851A>G (hg19) ; chr13:g.31317714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317714A>G , CM000675.2:g.31317714A>G	GRCh38
NC_000013.10:g.31891851A>G , CM000675.1:g.31891851A>G	GRCh37
NC_000013.9:g.30789851A>G	NCBI36
NG_011732.1:g.122740A>G
NG_011732.2:g.122740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1184+29A>G MANE Select	ENSP00000343002.4:n.1184+29A>G
ENST00000343307.4:c.1184+29A>G	ENSP00000343002.4:n.1184+29A>G
NM_194318.3:c.1184+29A>G	NP_919299.3:n.1184+29A>G
XM_006719768.2:c.1127+29A>G	XP_006719831.1:n.1127+29A>G
XM_011534936.1:c.1065-6037A>G	XP_011533238.1:n.1065-6037A>G
XM_011534937.1:c.1064+29A>G	XP_011533239.1:n.1064+29A>G
XM_011534938.1:c.1037+29A>G	XP_011533240.1:n.1037+29A>G
XM_006719768.3:c.1127+29A>G	XP_006719831.1:n.1127+29A>G
XM_011534938.2:c.1037+29A>G	XP_011533240.1:n.1037+29A>G
XM_017020395.1:c.1037+29A>G	XP_016875884.1:n.1037+29A>G
NM_194318.4:c.1184+29A>G MANE Select	NP_919299.3:n.1184+29A>G