Canonical Allele Identifier: CA451075140

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1402355943
• gnomAD v2: 6-81053497-C-T
• gnomAD v4: 6-80343780-C-T
• MyVariant Identifiers: chr6:g.81053497C>T (hg19) ; chr6:g.80343780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343780C>T , CM000668.2:g.80343780C>T	GRCh38
NC_000006.11:g.81053497C>T , CM000668.1:g.81053497C>T	GRCh37
NC_000006.10:g.81110216C>T	NCBI36
NG_009775.1:g.242154C>T
NG_009775.2:g.242154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1155C>T MANE Select	ENSP00000318351.5:p.Ala385=
ENST00000320393.8:c.1155C>T	ENSP00000318351.5:p.Ala385=
ENST00000356489.9:c.1155C>T	ENSP00000348880.5:p.Ala385=
ENST00000491328.1:n.210C>T
NM_000056.3:c.1155C>T	NP_000047.1:p.Ala385=
NM_183050.2:c.1155C>T	NP_898871.1:p.Ala385=
XM_006715542.2:c.945C>T	XP_006715605.1:p.Ala315=
XM_011536024.1:c.*161C>T	XP_011534326.1:n.*161C>T
XM_011536026.1:c.945C>T	XP_011534328.1:p.Ala315=
NM_000056.4:c.1155C>T	NP_000047.1:p.Ala385=
NM_001318975.1:c.945C>T	NP_001305904.1:p.Ala315=
NM_183050.3:c.1155C>T	NP_898871.1:p.Ala385=
NR_134945.1:n.1333C>T
XM_011536024.3:c.*161C>T	XP_011534326.1:n.*161C>T
XR_001743546.2:n.1068+70559C>T
XR_001743547.2:n.1068+70559C>T
XR_001743548.2:n.1068+70559C>T
XR_001743549.2:n.1068+70559C>T
XR_002956292.1:n.1068+70559C>T
NM_183050.4:c.1155C>T MANE Select	NP_898871.1:p.Ala385=
NR_134945.2:n.1272C>T
NM_000056.5:c.1155C>T	NP_000047.1:p.Ala385=