Canonical Allele Identifier: CA902030045

Gene: BCHE

Linked Data

• dbSNP Id: rs1296055903
• gnomAD v3: 3-165831036-T-G
• gnomAD v4: 3-165831036-T-G
• MyVariant Identifiers: chr3:g.165548824T>G (hg19) ; chr3:g.165831036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831036T>G , CM000665.2:g.165831036T>G	GRCh38
NC_000003.11:g.165548824T>G , CM000665.1:g.165548824T>G	GRCh37
NC_000003.10:g.167031518T>G	NCBI36
NG_009031.1:g.11430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-3A>C MANE Select	ENSP00000264381.3:n.-3A>C
ENST00000264381.7:c.-3A>C	ENSP00000264381.3:n.-3A>C
ENST00000479451.5:c.107+6278A>C	ENSP00000418325.1:n.107+6278A>C
ENST00000482958.1:c.-3A>C	ENSP00000419804.1:n.-3A>C
ENST00000488954.1:c.107+6278A>C	ENSP00000418504.1:n.107+6278A>C
ENST00000497011.5:c.-3A>C	ENSP00000419505.1:n.-3A>C
NM_000055.2:c.-3A>C	NP_000046.1:n.-3A>C
XM_005247685.1:c.121A>C	XP_005247742.1:p.Asn41His
NM_000055.3:c.-3A>C	NP_000046.1:n.-3A>C
NR_137635.1:n.159+6278A>C
NR_137636.1:n.165A>C
NM_000055.4:c.-3A>C MANE Select	NP_000046.1:n.-3A>C
NR_137635.2:n.110+6278A>C
NR_137636.2:n.116A>C