Canonical Allele Identifier: CA387818968

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891714T>C (hg19) ; chr13:g.31317577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317577T>C , CM000675.2:g.31317577T>C	GRCh38
NC_000013.10:g.31891714T>C , CM000675.1:g.31891714T>C	GRCh37
NC_000013.9:g.30789714T>C	NCBI36
NG_011732.1:g.122603T>C
NG_011732.2:g.122603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1076T>C MANE Select	ENSP00000343002.4:p.Leu359Pro
ENST00000343307.4:c.1076T>C	ENSP00000343002.4:p.Leu359Pro
NM_194318.3:c.1076T>C	NP_919299.3:p.Leu359Pro
XM_006719768.2:c.1019T>C	XP_006719831.1:p.Leu340Pro
XM_011534936.1:c.1065-6174T>C	XP_011533238.1:n.1065-6174T>C
XM_011534937.1:c.956T>C	XP_011533239.1:p.Leu319Pro
XM_011534938.1:c.929T>C	XP_011533240.1:p.Leu310Pro
XR_941500.1:n.1261T>C
XR_941501.1:n.1141T>C
XM_006719768.3:c.1019T>C	XP_006719831.1:p.Leu340Pro
XM_011534938.2:c.929T>C	XP_011533240.1:p.Leu310Pro
XM_017020395.1:c.929T>C	XP_016875884.1:p.Leu310Pro
NM_194318.4:c.1076T>C MANE Select	NP_919299.3:p.Leu359Pro