Canonical Allele Identifier: CA2575385070

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31317719-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317719A>C , CM000675.2:g.31317719A>C	GRCh38
NC_000013.10:g.31891856A>C , CM000675.1:g.31891856A>C	GRCh37
NC_000013.9:g.30789856A>C	NCBI36
NG_011732.1:g.122745A>C
NG_011732.2:g.122745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1184+34A>C MANE Select	ENSP00000343002.4:n.1184+34A>C
ENST00000343307.4:c.1184+34A>C	ENSP00000343002.4:n.1184+34A>C
NM_194318.3:c.1184+34A>C	NP_919299.3:n.1184+34A>C
XM_006719768.2:c.1127+34A>C	XP_006719831.1:n.1127+34A>C
XM_011534936.1:c.1065-6032A>C	XP_011533238.1:n.1065-6032A>C
XM_011534937.1:c.1064+34A>C	XP_011533239.1:n.1064+34A>C
XM_011534938.1:c.1037+34A>C	XP_011533240.1:n.1037+34A>C
XM_006719768.3:c.1127+34A>C	XP_006719831.1:n.1127+34A>C
XM_011534938.2:c.1037+34A>C	XP_011533240.1:n.1037+34A>C
XM_017020395.1:c.1037+34A>C	XP_016875884.1:n.1037+34A>C
NM_194318.4:c.1184+34A>C MANE Select	NP_919299.3:n.1184+34A>C