Canonical Allele Identifier: CA364658479

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.80881003T>C (hg19) ; chr6:g.80171286T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171286T>C , CM000668.2:g.80171286T>C	GRCh38
NC_000006.11:g.80881003T>C , CM000668.1:g.80881003T>C	GRCh37
NC_000006.10:g.80937722T>C	NCBI36
NG_009775.1:g.69660T>C
NG_009775.2:g.69660T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.638T>C MANE Select	ENSP00000318351.5:p.Val213Ala
ENST00000320393.8:c.638T>C	ENSP00000318351.5:p.Val213Ala
ENST00000356489.9:c.638T>C	ENSP00000348880.5:p.Val213Ala
NM_000056.3:c.638T>C	NP_000047.1:p.Val213Ala
NM_183050.2:c.638T>C	NP_898871.1:p.Val213Ala
XM_005248756.3:c.638T>C	XP_005248813.1:p.Val213Ala
XM_006715542.2:c.428T>C	XP_006715605.1:p.Val143Ala
XM_011536023.1:c.638T>C	XP_011534325.1:p.Val213Ala
XM_011536024.1:c.638T>C	XP_011534326.1:p.Val213Ala
XM_011536025.1:c.638T>C	XP_011534327.1:p.Val213Ala
XM_011536026.1:c.428T>C	XP_011534328.1:p.Val143Ala
NM_000056.4:c.638T>C	NP_000047.1:p.Val213Ala
NM_001318975.1:c.428T>C	NP_001305904.1:p.Val143Ala
NM_183050.3:c.638T>C	NP_898871.1:p.Val213Ala
NR_134945.1:n.816T>C
XM_005248756.5:c.638T>C	XP_005248813.1:p.Val213Ala
XM_011536023.3:c.638T>C	XP_011534325.1:p.Val213Ala
XM_011536024.3:c.638T>C	XP_011534326.1:p.Val213Ala
XM_011536025.3:c.638T>C	XP_011534327.1:p.Val213Ala
XR_001743546.2:n.668T>C
XR_001743547.2:n.668T>C
XR_001743548.2:n.668T>C
XR_001743549.2:n.668T>C
XR_002956292.1:n.668T>C
NM_183050.4:c.638T>C MANE Select	NP_898871.1:p.Val213Ala
NR_134945.2:n.755T>C
NM_000056.5:c.638T>C	NP_000047.1:p.Val213Ala