Canonical Allele Identifier: CA387818984

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891720A>T (hg19) ; chr13:g.31317583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317583A>T , CM000675.2:g.31317583A>T	GRCh38
NC_000013.10:g.31891720A>T , CM000675.1:g.31891720A>T	GRCh37
NC_000013.9:g.30789720A>T	NCBI36
NG_011732.1:g.122609A>T
NG_011732.2:g.122609A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1082A>T MANE Select	ENSP00000343002.4:p.His361Leu
ENST00000343307.4:c.1082A>T	ENSP00000343002.4:p.His361Leu
NM_194318.3:c.1082A>T	NP_919299.3:p.His361Leu
XM_006719768.2:c.1025A>T	XP_006719831.1:p.His342Leu
XM_011534936.1:c.1065-6168A>T	XP_011533238.1:n.1065-6168A>T
XM_011534937.1:c.962A>T	XP_011533239.1:p.His321Leu
XM_011534938.1:c.935A>T	XP_011533240.1:p.His312Leu
XR_941500.1:n.1267A>T
XR_941501.1:n.1147A>T
XM_006719768.3:c.1025A>T	XP_006719831.1:p.His342Leu
XM_011534938.2:c.935A>T	XP_011533240.1:p.His312Leu
XM_017020395.1:c.935A>T	XP_016875884.1:p.His312Leu
NM_194318.4:c.1082A>T MANE Select	NP_919299.3:p.His361Leu