Canonical Allele Identifier: CA387819190

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891822G>C (hg19) ; chr13:g.31317685G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317685G>C , CM000675.2:g.31317685G>C	GRCh38
NC_000013.10:g.31891822G>C , CM000675.1:g.31891822G>C	GRCh37
NC_000013.9:g.30789822G>C	NCBI36
NG_011732.1:g.122711G>C
NG_011732.2:g.122711G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1184G>C MANE Select	ENSP00000343002.4:p.Gly395Ala
ENST00000343307.4:c.1184G>C	ENSP00000343002.4:p.Gly395Ala
NM_194318.3:c.1184G>C	NP_919299.3:p.Gly395Ala
XM_006719768.2:c.1127G>C	XP_006719831.1:p.Gly376Ala
XM_011534936.1:c.1065-6066G>C	XP_011533238.1:n.1065-6066G>C
XM_011534937.1:c.1064G>C	XP_011533239.1:p.Gly355Ala
XM_011534938.1:c.1037G>C	XP_011533240.1:p.Gly346Ala
XM_006719768.3:c.1127G>C	XP_006719831.1:p.Gly376Ala
XM_011534938.2:c.1037G>C	XP_011533240.1:p.Gly346Ala
XM_017020395.1:c.1037G>C	XP_016875884.1:p.Gly346Ala
NM_194318.4:c.1184G>C MANE Select	NP_919299.3:p.Gly395Ala