Canonical Allele Identifier: CA1090992368

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1772756913
• gnomAD v3: 6-80169065-T-A
• gnomAD v4: 6-80169065-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80169065T>A , CM000668.2:g.80169065T>A	GRCh38
NC_000006.11:g.80878782T>A , CM000668.1:g.80878782T>A	GRCh37
NC_000006.10:g.80935501T>A	NCBI36
NG_009775.1:g.67439T>A
NG_009775.2:g.67439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.633+35T>A MANE Select	ENSP00000318351.5:n.633+35T>A
ENST00000320393.8:c.633+35T>A	ENSP00000318351.5:n.633+35T>A
ENST00000356489.9:c.633+35T>A	ENSP00000348880.5:n.633+35T>A
ENST00000369760.8:c.633+35T>A	ENSP00000358775.4:n.633+35T>A
NM_000056.3:c.633+35T>A	NP_000047.1:n.633+35T>A
NM_183050.2:c.633+35T>A	NP_898871.1:n.633+35T>A
XM_005248756.3:c.633+35T>A	XP_005248813.1:n.633+35T>A
XM_006715542.2:c.423+35T>A	XP_006715605.1:n.423+35T>A
XM_011536023.1:c.633+35T>A	XP_011534325.1:n.633+35T>A
XM_011536024.1:c.633+35T>A	XP_011534326.1:n.633+35T>A
XM_011536025.1:c.633+35T>A	XP_011534327.1:n.633+35T>A
XM_011536026.1:c.423+35T>A	XP_011534328.1:n.423+35T>A
XM_011536027.1:c.633+35T>A	XP_011534329.1:n.633+35T>A
NM_000056.4:c.633+35T>A	NP_000047.1:n.633+35T>A
NM_001318975.1:c.423+35T>A	NP_001305904.1:n.423+35T>A
NM_183050.3:c.633+35T>A	NP_898871.1:n.633+35T>A
NR_134945.1:n.717+35T>A
XM_005248756.5:c.633+35T>A	XP_005248813.1:n.633+35T>A
XM_011536023.3:c.633+35T>A	XP_011534325.1:n.633+35T>A
XM_011536024.3:c.633+35T>A	XP_011534326.1:n.633+35T>A
XM_011536025.3:c.633+35T>A	XP_011534327.1:n.633+35T>A
XR_001743546.2:n.663+35T>A
XR_001743547.2:n.663+35T>A
XR_001743548.2:n.663+35T>A
XR_001743549.2:n.663+35T>A
XR_002956292.1:n.663+35T>A
NM_183050.4:c.633+35T>A MANE Select	NP_898871.1:n.633+35T>A
NR_134945.2:n.656+35T>A
NM_000056.5:c.633+35T>A	NP_000047.1:n.633+35T>A