Canonical Allele Identifier: CA355113441

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165548680C>G (hg19) ; chr3:g.165830892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830892C>G , CM000665.2:g.165830892C>G	GRCh38
NC_000003.11:g.165548680C>G , CM000665.1:g.165548680C>G	GRCh37
NC_000003.10:g.167031374C>G	NCBI36
NG_009031.1:g.11574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.142G>C MANE Select	ENSP00000264381.3:p.Val48Leu
ENST00000264381.7:c.142G>C	ENSP00000264381.3:p.Val48Leu
ENST00000479451.5:c.107+6422G>C	ENSP00000418325.1:n.107+6422G>C
ENST00000482958.1:c.142G>C	ENSP00000419804.1:p.Val48Leu
ENST00000488954.1:c.107+6422G>C	ENSP00000418504.1:n.107+6422G>C
ENST00000497011.5:c.142G>C	ENSP00000419505.1:p.Val48Leu
NM_000055.2:c.142G>C	NP_000046.1:p.Val48Leu
XM_005247685.1:c.265G>C	XP_005247742.1:p.Val89Leu
NM_000055.3:c.142G>C	NP_000046.1:p.Val48Leu
NR_137635.1:n.159+6422G>C
NR_137636.1:n.309G>C
NM_000055.4:c.142G>C MANE Select	NP_000046.1:p.Val48Leu
NR_137635.2:n.110+6422G>C
NR_137636.2:n.260G>C