Canonical Allele Identifier: CA436968804

Gene: BCHE

Linked Data

• dbSNP Id: rs1428350847
• gnomAD v2: 3-165547874-T-G
• gnomAD v4: 3-165830086-T-G
• MyVariant Identifiers: chr3:g.165547874T>G (hg19) ; chr3:g.165830086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830086T>G , CM000665.2:g.165830086T>G	GRCh38
NC_000003.11:g.165547874T>G , CM000665.1:g.165547874T>G	GRCh37
NC_000003.10:g.167030568T>G	NCBI36
NG_009031.1:g.12380A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.948A>C MANE Select	ENSP00000264381.3:p.Val316=
ENST00000264381.7:c.948A>C	ENSP00000264381.3:p.Val316=
ENST00000479451.5:c.107+7228A>C	ENSP00000418325.1:n.107+7228A>C
ENST00000482958.1:c.948A>C	ENSP00000419804.1:p.Val316=
ENST00000488954.1:c.107+7228A>C	ENSP00000418504.1:n.107+7228A>C
ENST00000497011.5:c.948A>C	ENSP00000419505.1:p.Val316=
NM_000055.2:c.948A>C	NP_000046.1:p.Val316=
XM_005247685.1:c.1071A>C	XP_005247742.1:p.Val357=
NM_000055.3:c.948A>C	NP_000046.1:p.Val316=
NR_137635.1:n.159+7228A>C
NR_137636.1:n.1115A>C
NM_000055.4:c.948A>C MANE Select	NP_000046.1:p.Val316=
NR_137635.2:n.110+7228A>C
NR_137636.2:n.1066A>C