Canonical Allele Identifier: CA247891659
Gene: B3GLCT HGNC NCBI

Linked Data

dbSNP Id: rs995796008

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1184G>A MANE Select ENSP00000343002.4:p.Gly395Glu
ENST00000343307.4:c.1184G>A ENSP00000343002.4:p.Gly395Glu
NM_194318.3:c.1184G>A NP_919299.3:p.Gly395Glu
XM_006719768.2:c.1127G>A XP_006719831.1:p.Gly376Glu
XM_011534936.1:c.1065-6066G>A XP_011533238.1:n.1065-6066G>A
XM_011534937.1:c.1064G>A XP_011533239.1:p.Gly355Glu
XM_011534938.1:c.1037G>A XP_011533240.1:p.Gly346Glu
XM_006719768.3:c.1127G>A XP_006719831.1:p.Gly376Glu
XM_011534938.2:c.1037G>A XP_011533240.1:p.Gly346Glu
XM_017020395.1:c.1037G>A XP_016875884.1:p.Gly346Glu
NM_194318.4:c.1184G>A MANE Select NP_919299.3:p.Gly395Glu