Canonical Allele Identifier: CA16604994

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 390609
• ClinVar RCV Id: RCV000429032 ; RCV000675115
• dbSNP Id: rs994415333
• gnomAD v4: 6-80171285-G-T
• MyVariant Identifiers: chr6:g.80881002G>T (hg19) ; chr6:g.80171285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171285G>T , CM000668.2:g.80171285G>T	GRCh38
NC_000006.11:g.80881002G>T , CM000668.1:g.80881002G>T	GRCh37
NC_000006.10:g.80937721G>T	NCBI36
NG_009775.1:g.69659G>T
NG_009775.2:g.69659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.637G>T MANE Select	ENSP00000318351.5:p.Val213Phe
ENST00000320393.8:c.637G>T	ENSP00000318351.5:p.Val213Phe
ENST00000356489.9:c.637G>T	ENSP00000348880.5:p.Val213Phe
NM_000056.3:c.637G>T	NP_000047.1:p.Val213Phe
NM_183050.2:c.637G>T	NP_898871.1:p.Val213Phe
XM_005248756.3:c.637G>T	XP_005248813.1:p.Val213Phe
XM_006715542.2:c.427G>T	XP_006715605.1:p.Val143Phe
XM_011536023.1:c.637G>T	XP_011534325.1:p.Val213Phe
XM_011536024.1:c.637G>T	XP_011534326.1:p.Val213Phe
XM_011536025.1:c.637G>T	XP_011534327.1:p.Val213Phe
XM_011536026.1:c.427G>T	XP_011534328.1:p.Val143Phe
NM_000056.4:c.637G>T	NP_000047.1:p.Val213Phe
NM_001318975.1:c.427G>T	NP_001305904.1:p.Val143Phe
NM_183050.3:c.637G>T	NP_898871.1:p.Val213Phe
NR_134945.1:n.815G>T
XM_005248756.5:c.637G>T	XP_005248813.1:p.Val213Phe
XM_011536023.3:c.637G>T	XP_011534325.1:p.Val213Phe
XM_011536024.3:c.637G>T	XP_011534326.1:p.Val213Phe
XM_011536025.3:c.637G>T	XP_011534327.1:p.Val213Phe
XR_001743546.2:n.667G>T
XR_001743547.2:n.667G>T
XR_001743548.2:n.667G>T
XR_001743549.2:n.667G>T
XR_002956292.1:n.667G>T
NM_183050.4:c.637G>T MANE Select	NP_898871.1:p.Val213Phe
NR_134945.2:n.754G>T
NM_000056.5:c.637G>T	NP_000047.1:p.Val213Phe