Canonical Allele Identifier: CA387720758

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31843381G>C (hg19) ; chr13:g.31269244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269244G>C , CM000675.2:g.31269244G>C	GRCh38
NC_000013.10:g.31843381G>C , CM000675.1:g.31843381G>C	GRCh37
NC_000013.9:g.30741381G>C	NCBI36
NG_011732.1:g.74270G>C
NG_011732.2:g.74270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.627G>C MANE Select	ENSP00000343002.4:p.Leu209Phe
ENST00000343307.4:c.627G>C	ENSP00000343002.4:p.Leu209Phe
ENST00000461652.2:n.242G>C
NM_194318.3:c.627G>C	NP_919299.3:p.Leu209Phe
XM_006719768.2:c.570G>C	XP_006719831.1:p.Leu190Phe
XM_011534936.1:c.627G>C	XP_011533238.1:p.Leu209Phe
XM_011534937.1:c.627G>C	XP_011533239.1:p.Leu209Phe
XM_011534938.1:c.480G>C	XP_011533240.1:p.Leu160Phe
XR_941500.1:n.726G>C
XR_941501.1:n.726G>C
XM_006719768.3:c.570G>C	XP_006719831.1:p.Leu190Phe
XM_011534938.2:c.480G>C	XP_011533240.1:p.Leu160Phe
XM_017020395.1:c.480G>C	XP_016875884.1:p.Leu160Phe
NM_194318.4:c.627G>C MANE Select	NP_919299.3:p.Leu209Phe