Canonical Allele Identifier: CA436969225

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165547775A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829987A>C , CM000665.2:g.165829987A>C	GRCh38
NC_000003.11:g.165547775A>C , CM000665.1:g.165547775A>C	GRCh37
NC_000003.10:g.167030469A>C	NCBI36
NG_009031.1:g.12479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1047T>G MANE Select	ENSP00000264381.3:p.Val349=
ENST00000264381.7:c.1047T>G	ENSP00000264381.3:p.Val349=
ENST00000479451.5:c.107+7327T>G	ENSP00000418325.1:n.107+7327T>G
ENST00000482958.1:c.1047T>G	ENSP00000419804.1:p.Val349=
ENST00000488954.1:c.107+7327T>G	ENSP00000418504.1:n.107+7327T>G
ENST00000497011.5:c.1047T>G	ENSP00000419505.1:p.Val349=
NM_000055.2:c.1047T>G	NP_000046.1:p.Val349=
XM_005247685.1:c.1170T>G	XP_005247742.1:p.Val390=
NM_000055.3:c.1047T>G	NP_000046.1:p.Val349=
NR_137635.1:n.159+7327T>G
NR_137636.1:n.1214T>G
NM_000055.4:c.1047T>G MANE Select	NP_000046.1:p.Val349=
NR_137635.2:n.110+7327T>G
NR_137636.2:n.1165T>G