Canonical Allele Identifier: CA364658403

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1400559
• ClinVar RCV Id: RCV001932760
• dbSNP Id: rs773031829
• MyVariant Identifiers: chr6:g.80816581G>C (hg19) ; chr6:g.80106864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106864G>C , CM000668.2:g.80106864G>C	GRCh38
NC_000006.11:g.80816581G>C , CM000668.1:g.80816581G>C	GRCh37
NC_000006.10:g.80873300G>C	NCBI36
NG_009775.1:g.5238G>C
NG_009775.2:g.5238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.171G>C MANE Select	ENSP00000318351.5:p.Gln57His
ENST00000320393.8:c.171G>C	ENSP00000318351.5:p.Gln57His
ENST00000356489.9:c.171G>C	ENSP00000348880.5:p.Gln57His
ENST00000369760.8:c.171G>C	ENSP00000358775.4:p.Gln57His
NM_000056.3:c.171G>C	NP_000047.1:p.Gln57His
NM_183050.2:c.171G>C	NP_898871.1:p.Gln57His
XM_005248756.3:c.171G>C	XP_005248813.1:p.Gln57His
XM_006715542.2:c.-15+181G>C	XP_006715605.1:n.-15+181G>C
XM_011536023.1:c.171G>C	XP_011534325.1:p.Gln57His
XM_011536024.1:c.171G>C	XP_011534326.1:p.Gln57His
XM_011536025.1:c.171G>C	XP_011534327.1:p.Gln57His
XM_011536027.1:c.171G>C	XP_011534329.1:p.Gln57His
NM_000056.4:c.171G>C	NP_000047.1:p.Gln57His
NM_001318975.1:c.-15+181G>C	NP_001305904.1:n.-15+181G>C
NM_183050.3:c.171G>C	NP_898871.1:p.Gln57His
NR_134945.1:n.255G>C
XM_005248756.5:c.171G>C	XP_005248813.1:p.Gln57His
XM_011536023.3:c.171G>C	XP_011534325.1:p.Gln57His
XM_011536024.3:c.171G>C	XP_011534326.1:p.Gln57His
XM_011536025.3:c.171G>C	XP_011534327.1:p.Gln57His
XR_001743546.2:n.201G>C
XR_001743547.2:n.201G>C
XR_001743548.2:n.201G>C
XR_001743549.2:n.201G>C
XR_002956292.1:n.201G>C
NM_183050.4:c.171G>C MANE Select	NP_898871.1:p.Gln57His
NR_134945.2:n.194G>C
NM_000056.5:c.171G>C	NP_000047.1:p.Gln57His