Canonical Allele Identifier: CA355110446

Gene: BCHE

Linked Data

• COSMIC: COSM3589648
• MyVariant Identifiers: chr3:g.165504094G>A (hg19) ; chr3:g.165786306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786306G>A , CM000665.2:g.165786306G>A	GRCh38
NC_000003.11:g.165504094G>A , CM000665.1:g.165504094G>A	GRCh37
NC_000003.10:g.166986788G>A	NCBI36
NG_009031.1:g.56160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1523C>T MANE Select	ENSP00000264381.3:p.Pro508Leu
ENST00000264381.7:c.1523C>T	ENSP00000264381.3:p.Pro508Leu
ENST00000479451.5:c.113C>T	ENSP00000418325.1:p.Pro38Leu
ENST00000482958.1:c.*29C>T	ENSP00000419804.1:n.*29C>T
ENST00000488954.1:c.113C>T	ENSP00000418504.1:p.Pro38Leu
ENST00000497011.5:c.1523C>T	ENSP00000419505.1:p.Pro508Leu
NM_000055.2:c.1523C>T	NP_000046.1:p.Pro508Leu
XM_005247685.1:c.1646C>T	XP_005247742.1:p.Pro549Leu
NM_000055.3:c.1523C>T	NP_000046.1:p.Pro508Leu
NR_137635.1:n.165C>T
NR_137636.1:n.1690C>T
NM_000055.4:c.1523C>T MANE Select	NP_000046.1:p.Pro508Leu
NR_137635.2:n.116C>T
NR_137636.2:n.1641C>T