Canonical Allele Identifier: CA2082357990
Gene: B3GLCT HGNC NCBI

Linked Data

dbSNP Id: rs1196270133

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31317689A>T , CM000675.2:g.31317689A>T GRCh38
NC_000013.10:g.31891826A>T , CM000675.1:g.31891826A>T GRCh37
NC_000013.9:g.30789826A>T NCBI36
NG_011732.1:g.122715A>T
NG_011732.2:g.122715A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343307.5:c.1184+4A>T MANE Select ENSP00000343002.4:n.1184+4A>T
ENST00000343307.4:c.1184+4A>T ENSP00000343002.4:n.1184+4A>T
NM_194318.3:c.1184+4A>T NP_919299.3:n.1184+4A>T
XM_006719768.2:c.1127+4A>T XP_006719831.1:n.1127+4A>T
XM_011534936.1:c.1065-6062A>T XP_011533238.1:n.1065-6062A>T
XM_011534937.1:c.1064+4A>T XP_011533239.1:n.1064+4A>T
XM_011534938.1:c.1037+4A>T XP_011533240.1:n.1037+4A>T
XM_006719768.3:c.1127+4A>T XP_006719831.1:n.1127+4A>T
XM_011534938.2:c.1037+4A>T XP_011533240.1:n.1037+4A>T
XM_017020395.1:c.1037+4A>T XP_016875884.1:n.1037+4A>T
NM_194318.4:c.1184+4A>T MANE Select NP_919299.3:n.1184+4A>T