Canonical Allele Identifier: CA451072804

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1121268
• ClinVar RCV Id: RCV001451473
• dbSNP Id: rs2127775531
• gnomAD v4: 6-80168913-G-A
• MyVariant Identifiers: chr6:g.80878630G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168913G>A , CM000668.2:g.80168913G>A	GRCh38
NC_000006.11:g.80878630G>A , CM000668.1:g.80878630G>A	GRCh37
NC_000006.10:g.80935349G>A	NCBI36
NG_009775.1:g.67287G>A
NG_009775.2:g.67287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.516G>A MANE Select	ENSP00000318351.5:p.Gly172=
ENST00000320393.8:c.516G>A	ENSP00000318351.5:p.Gly172=
ENST00000356489.9:c.516G>A	ENSP00000348880.5:p.Gly172=
ENST00000369760.8:c.516G>A	ENSP00000358775.4:p.Gly172=
NM_000056.3:c.516G>A	NP_000047.1:p.Gly172=
NM_183050.2:c.516G>A	NP_898871.1:p.Gly172=
XM_005248756.3:c.516G>A	XP_005248813.1:p.Gly172=
XM_006715542.2:c.306G>A	XP_006715605.1:p.Gly102=
XM_011536023.1:c.516G>A	XP_011534325.1:p.Gly172=
XM_011536024.1:c.516G>A	XP_011534326.1:p.Gly172=
XM_011536025.1:c.516G>A	XP_011534327.1:p.Gly172=
XM_011536026.1:c.306G>A	XP_011534328.1:p.Gly102=
XM_011536027.1:c.516G>A	XP_011534329.1:p.Gly172=
NM_000056.4:c.516G>A	NP_000047.1:p.Gly172=
NM_001318975.1:c.306G>A	NP_001305904.1:p.Gly102=
NM_183050.3:c.516G>A	NP_898871.1:p.Gly172=
NR_134945.1:n.600G>A
XM_005248756.5:c.516G>A	XP_005248813.1:p.Gly172=
XM_011536023.3:c.516G>A	XP_011534325.1:p.Gly172=
XM_011536024.3:c.516G>A	XP_011534326.1:p.Gly172=
XM_011536025.3:c.516G>A	XP_011534327.1:p.Gly172=
XR_001743546.2:n.546G>A
XR_001743547.2:n.546G>A
XR_001743548.2:n.546G>A
XR_001743549.2:n.546G>A
XR_002956292.1:n.546G>A
NM_183050.4:c.516G>A MANE Select	NP_898871.1:p.Gly172=
NR_134945.2:n.539G>A
NM_000056.5:c.516G>A	NP_000047.1:p.Gly172=