Canonical Allele Identifier: CA2692512

Gene: BCHE

Linked Data

• ClinVar Variation Id: 901557
• ClinVar RCV Id: RCV001147518 ; RCV003387967 ; RCV003963087
• dbSNP Id: rs71534242
• ExAC: 3:165548387 A / T
• gnomAD v2: 3-165548387-A-T
• gnomAD v3: 3-165830599-A-T
• gnomAD v4: 3-165830599-A-T
• MyVariant Identifiers: chr3:g.165548387A>T (hg19) ; chr3:g.165830599A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830599A>T , CM000665.2:g.165830599A>T	GRCh38
NC_000003.11:g.165548387A>T , CM000665.1:g.165548387A>T	GRCh37
NC_000003.10:g.167031081A>T	NCBI36
NG_009031.1:g.11867T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.435T>A MANE Select	ENSP00000264381.3:p.Gly145=
ENST00000264381.7:c.435T>A	ENSP00000264381.3:p.Gly145=
ENST00000479451.5:c.107+6715T>A	ENSP00000418325.1:n.107+6715T>A
ENST00000482958.1:c.435T>A	ENSP00000419804.1:p.Gly145=
ENST00000488954.1:c.107+6715T>A	ENSP00000418504.1:n.107+6715T>A
ENST00000497011.5:c.435T>A	ENSP00000419505.1:p.Gly145=
NM_000055.2:c.435T>A	NP_000046.1:p.Gly145=
XM_005247685.1:c.558T>A	XP_005247742.1:p.Gly186=
NM_000055.3:c.435T>A	NP_000046.1:p.Gly145=
NR_137635.1:n.159+6715T>A
NR_137636.1:n.602T>A
NM_000055.4:c.435T>A MANE Select	NP_000046.1:p.Gly145=
NR_137635.2:n.110+6715T>A
NR_137636.2:n.553T>A