Canonical Allele Identifier: CA10615256

Gene: BCHE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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