Canonical Allele Identifier: CA902039313

Gene: BCHE

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773193C>A , CM000665.2:g.165773193C>A	GRCh38
NC_000003.11:g.165490981C>A , CM000665.1:g.165490981C>A	GRCh37
NC_000003.10:g.166973675C>A	NCBI36
NG_009031.1:g.69273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*189G>T MANE Select	ENSP00000264381.3:n.*189G>T
ENST00000264381.7:c.*189G>T	ENSP00000264381.3:n.*189G>T
ENST00000479451.5:c.588G>T	ENSP00000418325.1:n.588G>T
ENST00000482958.1:c.*504G>T	ENSP00000419804.1:n.*504G>T
ENST00000497011.5:c.*388G>T	ENSP00000419505.1:n.*388G>T
NM_000055.2:c.*189G>T	NP_000046.1:n.*189G>T
XM_005247685.1:c.*189G>T	XP_005247742.1:n.*189G>T
NM_000055.3:c.*189G>T	NP_000046.1:n.*189G>T
NR_137635.1:n.640G>T
NR_137636.1:n.2244G>T
NM_000055.4:c.*189G>T MANE Select	NP_000046.1:n.*189G>T
NR_137635.2:n.591G>T
NR_137636.2:n.2195G>T