Canonical Allele Identifier: CA2679496940

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106652-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106652G>T , CM000668.2:g.80106652G>T	GRCh38
NC_000006.11:g.80816369G>T , CM000668.1:g.80816369G>T	GRCh37
NC_000006.10:g.80873088G>T	NCBI36
NG_009775.1:g.5026G>T
NG_009775.2:g.5026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-42G>T	ENSP00000318351.5:n.-42G>T
ENST00000356489.9:c.-42G>T	ENSP00000348880.5:n.-42G>T
ENST00000369760.8:c.-42G>T	ENSP00000358775.4:n.-42G>T
NM_000056.3:c.-42G>T	NP_000047.1:n.-42G>T
NM_183050.2:c.-42G>T	NP_898871.1:n.-42G>T
XM_006715542.2:c.-46G>T	XP_006715605.1:n.-46G>T
NM_000056.4:c.-42G>T	NP_000047.1:n.-42G>T
NM_001318975.1:c.-46G>T	NP_001305904.1:n.-46G>T
NM_183050.3:c.-42G>T	NP_898871.1:n.-42G>T
NR_134945.1:n.43G>T