Canonical Allele Identifier: CA2578677402

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106627-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106627G>T , CM000668.2:g.80106627G>T	GRCh38
NC_000006.11:g.80816344G>T , CM000668.1:g.80816344G>T	GRCh37
NC_000006.10:g.80873063G>T	NCBI36
NG_009775.1:g.5001G>T
NG_009775.2:g.5001G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.3:c.-67G>T	NP_000047.1:n.-67G>T
NM_183050.2:c.-67G>T	NP_898871.1:n.-67G>T
NM_000056.4:c.-67G>T	NP_000047.1:n.-67G>T
NM_001318975.1:c.-71G>T	NP_001305904.1:n.-71G>T
NM_183050.3:c.-67G>T	NP_898871.1:n.-67G>T
NR_134945.1:n.18G>T