Canonical Allele Identifier: CA387818957

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891708C>T (hg19) ; chr13:g.31317571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317571C>T , CM000675.2:g.31317571C>T	GRCh38
NC_000013.10:g.31891708C>T , CM000675.1:g.31891708C>T	GRCh37
NC_000013.9:g.30789708C>T	NCBI36
NG_011732.1:g.122597C>T
NG_011732.2:g.122597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1070C>T MANE Select	ENSP00000343002.4:p.Ser357Phe
ENST00000343307.4:c.1070C>T	ENSP00000343002.4:p.Ser357Phe
NM_194318.3:c.1070C>T	NP_919299.3:p.Ser357Phe
XM_006719768.2:c.1013C>T	XP_006719831.1:p.Ser338Phe
XM_011534936.1:c.1065-6180C>T	XP_011533238.1:n.1065-6180C>T
XM_011534937.1:c.950C>T	XP_011533239.1:p.Ser317Phe
XM_011534938.1:c.923C>T	XP_011533240.1:p.Ser308Phe
XR_941500.1:n.1255C>T
XR_941501.1:n.1135C>T
XM_006719768.3:c.1013C>T	XP_006719831.1:p.Ser338Phe
XM_011534938.2:c.923C>T	XP_011533240.1:p.Ser308Phe
XM_017020395.1:c.923C>T	XP_016875884.1:p.Ser308Phe
NM_194318.4:c.1070C>T MANE Select	NP_919299.3:p.Ser357Phe