Canonical Allele Identifier: CA483373322

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317599T>C , CM000675.2:g.31317599T>C	GRCh38
NC_000013.10:g.31891736T>C , CM000675.1:g.31891736T>C	GRCh37
NC_000013.9:g.30789736T>C	NCBI36
NG_011732.1:g.122625T>C
NG_011732.2:g.122625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1098T>C MANE Select	ENSP00000343002.4:p.Tyr366=
ENST00000343307.4:c.1098T>C	ENSP00000343002.4:p.Tyr366=
NM_194318.3:c.1098T>C	NP_919299.3:p.Tyr366=
XM_006719768.2:c.1041T>C	XP_006719831.1:p.Tyr347=
XM_011534936.1:c.1065-6152T>C	XP_011533238.1:n.1065-6152T>C
XM_011534937.1:c.978T>C	XP_011533239.1:p.Tyr326=
XM_011534938.1:c.951T>C	XP_011533240.1:p.Tyr317=
XR_941500.1:n.1283T>C
XR_941501.1:n.1163T>C
XM_006719768.3:c.1041T>C	XP_006719831.1:p.Tyr347=
XM_011534938.2:c.951T>C	XP_011533240.1:p.Tyr317=
XM_017020395.1:c.951T>C	XP_016875884.1:p.Tyr317=
NM_194318.4:c.1098T>C MANE Select	NP_919299.3:p.Tyr366=