Canonical Allele Identifier: CA355114248

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491289T>C (hg19) ; chr3:g.165773501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773501T>C , CM000665.2:g.165773501T>C	GRCh38
NC_000003.11:g.165491289T>C , CM000665.1:g.165491289T>C	GRCh37
NC_000003.10:g.166973983T>C	NCBI36
NG_009031.1:g.68965A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1690A>G MANE Select	ENSP00000264381.3:p.Ile564Val
ENST00000264381.7:c.1690A>G	ENSP00000264381.3:p.Ile564Val
ENST00000479451.5:c.280A>G	ENSP00000418325.1:p.Ile94Val
ENST00000482958.1:c.*196A>G	ENSP00000419804.1:n.*196A>G
ENST00000497011.5:c.*80A>G	ENSP00000419505.1:n.*80A>G
NM_000055.2:c.1690A>G	NP_000046.1:p.Ile564Val
XM_005247685.1:c.1813A>G	XP_005247742.1:p.Ile605Val
NM_000055.3:c.1690A>G	NP_000046.1:p.Ile564Val
NR_137635.1:n.332A>G
NR_137636.1:n.1936A>G
NM_000055.4:c.1690A>G MANE Select	NP_000046.1:p.Ile564Val
NR_137635.2:n.283A>G
NR_137636.2:n.1887A>G