Canonical Allele Identifier: CA8021655
Gene: BCKDK HGNC NCBI
COSMIC:
COSM4665379 (not active)
COSM4665380 (not active)
MyVariant.info:
GRCh38 chr16:g.31110716G>A
GRCh37 chr16:g.31122037G>A
Revel Score:
ENST00000394951 0.510
ENST00000219794 (MANE Select) 0.510
ENST00000394950 0.510
ENST00000287507 0.510
gnomAD v2:
16:31122037 G / A
gnomAD v3:
16:31110716 G / A
gnomAD v4:
chr16-31110716-G-A
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31110716G>A , CM000678.2:g.31110716G>A GRCh38
NC_000016.9:g.31122037G>A , CM000678.1:g.31122037G>A GRCh37
NC_000016.8:g.31029538G>A NCBI36
NG_033011.1:g.7423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219794.11:c.671G>A MANE Select ENSP00000219794.6:p.Arg224His
ENST00000219794.10:c.671G>A ENSP00000219794.6:p.Arg224His
ENST00000287507.7:c.671G>A ENSP00000287507.3:p.Arg224His
ENST00000394950.7:c.671G>A ENSP00000378404.3:p.Arg224His
ENST00000394951.5:c.671G>A ENSP00000378405.1:p.Arg224His
ENST00000484226.2:c.644G>A ENSP00000457226.1:p.Arg215His
ENST00000566568.1:n.1360G>A
ENST00000567530.5:c.642+217G>A ENSP00000456479.1:n.642+217G>A
NM_001122957.2:c.671G>A NP_001116429.1:p.Arg224His
NM_001271926.1:c.671G>A NP_001258855.1:p.Arg224His
NM_005881.3:c.671G>A NP_005872.2:p.Arg224His
XM_017022859.1:c.671G>A XP_016878348.1:p.Arg224His
NM_005881.4:c.671G>A MANE Select NP_005872.2:p.Arg224His
NM_001122957.3:c.671G>A NP_001116429.1:p.Arg224His
NM_001271926.2:c.671G>A NP_001258855.1:p.Arg224His
NM_001122957.4:c.671G>A NP_001116429.1:p.Arg224His
NM_001271926.3:c.671G>A NP_001258855.1:p.Arg224His
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