Canonical Allele Identifier: CA2577951620

Gene: BCHE

Linked Data

• gnomAD v4: 3-165837261-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165837261G>A , CM000665.2:g.165837261G>A	GRCh38
NC_000003.11:g.165555049G>A , CM000665.1:g.165555049G>A	GRCh37
NC_000003.10:g.167037743G>A	NCBI36
NG_009031.1:g.5205C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.-9+53C>T MANE Select	ENSP00000264381.3:n.-9+53C>T
ENST00000264381.7:c.-9+53C>T	ENSP00000264381.3:n.-9+53C>T
ENST00000479451.5:c.107+53C>T	ENSP00000418325.1:n.107+53C>T
ENST00000482958.1:c.-9+53C>T	ENSP00000419804.1:n.-9+53C>T
ENST00000488954.1:c.107+53C>T	ENSP00000418504.1:n.107+53C>T
ENST00000497011.5:c.-9+53C>T	ENSP00000419505.1:n.-9+53C>T
NM_000055.2:c.-9+53C>T	NP_000046.1:n.-9+53C>T
XM_005247685.1:c.115+53C>T	XP_005247742.1:n.115+53C>T
NM_000055.3:c.-9+53C>T	NP_000046.1:n.-9+53C>T
NR_137635.1:n.159+53C>T
NR_137636.1:n.159+53C>T
NM_000055.4:c.-9+53C>T MANE Select	NP_000046.1:n.-9+53C>T
NR_137635.2:n.110+53C>T
NR_137636.2:n.110+53C>T