Canonical Allele Identifier: CA436969394

Gene: BCHE

Linked Data

• dbSNP Id: rs1714953798
• gnomAD v4: 3-165830965-A-G
• MyVariant Identifiers: chr3:g.165548753A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830965A>G , CM000665.2:g.165830965A>G	GRCh38
NC_000003.11:g.165548753A>G , CM000665.1:g.165548753A>G	GRCh37
NC_000003.10:g.167031447A>G	NCBI36
NG_009031.1:g.11501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.69T>C MANE Select	ENSP00000264381.3:p.Ile23=
ENST00000264381.7:c.69T>C	ENSP00000264381.3:p.Ile23=
ENST00000479451.5:c.107+6349T>C	ENSP00000418325.1:n.107+6349T>C
ENST00000482958.1:c.69T>C	ENSP00000419804.1:p.Ile23=
ENST00000488954.1:c.107+6349T>C	ENSP00000418504.1:n.107+6349T>C
ENST00000497011.5:c.69T>C	ENSP00000419505.1:p.Ile23=
NM_000055.2:c.69T>C	NP_000046.1:p.Ile23=
XM_005247685.1:c.192T>C	XP_005247742.1:p.Ile64=
NM_000055.3:c.69T>C	NP_000046.1:p.Ile23=
NR_137635.1:n.159+6349T>C
NR_137636.1:n.236T>C
NM_000055.4:c.69T>C MANE Select	NP_000046.1:p.Ile23=
NR_137635.2:n.110+6349T>C
NR_137636.2:n.187T>C