Canonical Allele Identifier: CA1417764182

Gene: BCHE

Linked Data

• dbSNP Id: rs1715220163

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165837247A>G , CM000665.2:g.165837247A>G	GRCh38
NC_000003.11:g.165555035A>G , CM000665.1:g.165555035A>G	GRCh37
NC_000003.10:g.167037729A>G	NCBI36
NG_009031.1:g.5219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.-9+67T>C MANE Select	ENSP00000264381.3:n.-9+67T>C
ENST00000264381.7:c.-9+67T>C	ENSP00000264381.3:n.-9+67T>C
ENST00000479451.5:c.107+67T>C	ENSP00000418325.1:n.107+67T>C
ENST00000482958.1:c.-9+67T>C	ENSP00000419804.1:n.-9+67T>C
ENST00000488954.1:c.107+67T>C	ENSP00000418504.1:n.107+67T>C
ENST00000497011.5:c.-9+67T>C	ENSP00000419505.1:n.-9+67T>C
NM_000055.2:c.-9+67T>C	NP_000046.1:n.-9+67T>C
XM_005247685.1:c.115+67T>C	XP_005247742.1:n.115+67T>C
NM_000055.3:c.-9+67T>C	NP_000046.1:n.-9+67T>C
NR_137635.1:n.159+67T>C
NR_137636.1:n.159+67T>C
NM_000055.4:c.-9+67T>C MANE Select	NP_000046.1:n.-9+67T>C
NR_137635.2:n.110+67T>C
NR_137636.2:n.110+67T>C