Canonical Allele Identifier: CA2692255

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786216A>G , CM000665.2:g.165786216A>G	GRCh38
NC_000003.11:g.165504004A>G , CM000665.1:g.165504004A>G	GRCh37
NC_000003.10:g.166986698A>G	NCBI36
NG_009031.1:g.56250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1613T>C MANE Select	ENSP00000264381.3:p.Ile538Thr
ENST00000264381.7:c.1613T>C	ENSP00000264381.3:p.Ile538Thr
ENST00000479451.5:c.203T>C	ENSP00000418325.1:p.Ile68Thr
ENST00000482958.1:c.*119T>C	ENSP00000419804.1:n.*119T>C
ENST00000488954.1:c.203T>C	ENSP00000418504.1:p.Ile68Thr
ENST00000497011.5:c.1613T>C	ENSP00000419505.1:p.Ile538Thr
NM_000055.2:c.1613T>C	NP_000046.1:p.Ile538Thr
XM_005247685.1:c.1736T>C	XP_005247742.1:p.Ile579Thr
NM_000055.3:c.1613T>C	NP_000046.1:p.Ile538Thr
NR_137635.1:n.255T>C
NR_137636.1:n.1780T>C
NM_000055.4:c.1613T>C MANE Select	NP_000046.1:p.Ile538Thr
NR_137635.2:n.206T>C
NR_137636.2:n.1731T>C