Canonical Allele Identifier: CA364657895

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 2150258
• ClinVar RCV Id: RCV003067476
• dbSNP Id: rs1330158702
• gnomAD v2: 6-80878683-G-C
• gnomAD v4: 6-80168966-G-C
• MyVariant Identifiers: chr6:g.80878683G>C (hg19) ; chr6:g.80168966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168966G>C , CM000668.2:g.80168966G>C	GRCh38
NC_000006.11:g.80878683G>C , CM000668.1:g.80878683G>C	GRCh37
NC_000006.10:g.80935402G>C	NCBI36
NG_009775.1:g.67340G>C
NG_009775.2:g.67340G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.569G>C MANE Select	ENSP00000318351.5:p.Gly190Ala
ENST00000320393.8:c.569G>C	ENSP00000318351.5:p.Gly190Ala
ENST00000356489.9:c.569G>C	ENSP00000348880.5:p.Gly190Ala
ENST00000369760.8:c.569G>C	ENSP00000358775.4:p.Gly190Ala
NM_000056.3:c.569G>C	NP_000047.1:p.Gly190Ala
NM_183050.2:c.569G>C	NP_898871.1:p.Gly190Ala
XM_005248756.3:c.569G>C	XP_005248813.1:p.Gly190Ala
XM_006715542.2:c.359G>C	XP_006715605.1:p.Gly120Ala
XM_011536023.1:c.569G>C	XP_011534325.1:p.Gly190Ala
XM_011536024.1:c.569G>C	XP_011534326.1:p.Gly190Ala
XM_011536025.1:c.569G>C	XP_011534327.1:p.Gly190Ala
XM_011536026.1:c.359G>C	XP_011534328.1:p.Gly120Ala
XM_011536027.1:c.569G>C	XP_011534329.1:p.Gly190Ala
NM_000056.4:c.569G>C	NP_000047.1:p.Gly190Ala
NM_001318975.1:c.359G>C	NP_001305904.1:p.Gly120Ala
NM_183050.3:c.569G>C	NP_898871.1:p.Gly190Ala
NR_134945.1:n.653G>C
XM_005248756.5:c.569G>C	XP_005248813.1:p.Gly190Ala
XM_011536023.3:c.569G>C	XP_011534325.1:p.Gly190Ala
XM_011536024.3:c.569G>C	XP_011534326.1:p.Gly190Ala
XM_011536025.3:c.569G>C	XP_011534327.1:p.Gly190Ala
XR_001743546.2:n.599G>C
XR_001743547.2:n.599G>C
XR_001743548.2:n.599G>C
XR_001743549.2:n.599G>C
XR_002956292.1:n.599G>C
NM_183050.4:c.569G>C MANE Select	NP_898871.1:p.Gly190Ala
NR_134945.2:n.592G>C
NM_000056.5:c.569G>C	NP_000047.1:p.Gly190Ala