Canonical Allele Identifier: CA483257179

Gene: B3GLCT

Linked Data

• dbSNP Id: rs1420559787
• gnomAD v2: 13-31843372-T-C
• gnomAD v4: 13-31269235-T-C
• MyVariant Identifiers: chr13:g.31843372T>C (hg19) ; chr13:g.31269235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269235T>C , CM000675.2:g.31269235T>C	GRCh38
NC_000013.10:g.31843372T>C , CM000675.1:g.31843372T>C	GRCh37
NC_000013.9:g.30741372T>C	NCBI36
NG_011732.1:g.74261T>C
NG_011732.2:g.74261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.618T>C MANE Select	ENSP00000343002.4:p.Ser206=
ENST00000343307.4:c.618T>C	ENSP00000343002.4:p.Ser206=
ENST00000461652.2:n.233T>C
NM_194318.3:c.618T>C	NP_919299.3:p.Ser206=
XM_006719768.2:c.561T>C	XP_006719831.1:p.Ser187=
XM_011534936.1:c.618T>C	XP_011533238.1:p.Ser206=
XM_011534937.1:c.618T>C	XP_011533239.1:p.Ser206=
XM_011534938.1:c.471T>C	XP_011533240.1:p.Ser157=
XR_941500.1:n.717T>C
XR_941501.1:n.717T>C
XM_006719768.3:c.561T>C	XP_006719831.1:p.Ser187=
XM_011534938.2:c.471T>C	XP_011533240.1:p.Ser157=
XM_017020395.1:c.471T>C	XP_016875884.1:p.Ser157=
NM_194318.4:c.618T>C MANE Select	NP_919299.3:p.Ser206=