Canonical Allele Identifier: CA387720764

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269245-A-C
• MyVariant Identifiers: chr13:g.31843382A>C (hg19) ; chr13:g.31269245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269245A>C , CM000675.2:g.31269245A>C	GRCh38
NC_000013.10:g.31843382A>C , CM000675.1:g.31843382A>C	GRCh37
NC_000013.9:g.30741382A>C	NCBI36
NG_011732.1:g.74271A>C
NG_011732.2:g.74271A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.628A>C MANE Select	ENSP00000343002.4:p.Lys210Gln
ENST00000343307.4:c.628A>C	ENSP00000343002.4:p.Lys210Gln
ENST00000461652.2:n.243A>C
NM_194318.3:c.628A>C	NP_919299.3:p.Lys210Gln
XM_006719768.2:c.571A>C	XP_006719831.1:p.Lys191Gln
XM_011534936.1:c.628A>C	XP_011533238.1:p.Lys210Gln
XM_011534937.1:c.628A>C	XP_011533239.1:p.Lys210Gln
XM_011534938.1:c.481A>C	XP_011533240.1:p.Lys161Gln
XR_941500.1:n.727A>C
XR_941501.1:n.727A>C
XM_006719768.3:c.571A>C	XP_006719831.1:p.Lys191Gln
XM_011534938.2:c.481A>C	XP_011533240.1:p.Lys161Gln
XM_017020395.1:c.481A>C	XP_016875884.1:p.Lys161Gln
NM_194318.4:c.628A>C MANE Select	NP_919299.3:p.Lys210Gln