Canonical Allele Identifier: CA355111832

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830135A>G , CM000665.2:g.165830135A>G	GRCh38
NC_000003.11:g.165547923A>G , CM000665.1:g.165547923A>G	GRCh37
NC_000003.10:g.167030617A>G	NCBI36
NG_009031.1:g.12331T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.899T>C MANE Select	NP_000046.1:p.Ile300Thr
ENST00000264381.8:c.899T>C MANE Select	ENSP00000264381.3:p.Ile300Thr
NM_000055.2:c.899T>C	NP_000046.1:p.Ile300Thr
NM_000055.3:c.899T>C	NP_000046.1:p.Ile300Thr
NR_137635.1:n.159+7179T>C
NR_137635.2:n.110+7179T>C
NR_137636.1:n.1066T>C
NR_137636.2:n.1017T>C
ENST00000264381.7:c.899T>C	ENSP00000264381.3:p.Ile300Thr
ENST00000479451.5:c.107+7179T>C	ENSP00000418325.1:n.107+7179T>C
ENST00000482958.1:c.899T>C	ENSP00000419804.1:p.Ile300Thr
ENST00000488954.1:c.107+7179T>C	ENSP00000418504.1:n.107+7179T>C
ENST00000497011.5:c.899T>C	ENSP00000419505.1:p.Ile300Thr
XM_005247685.1:c.1022T>C	XP_005247742.1:p.Ile341Thr