Canonical Allele Identifier: CA436818544

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504093T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786305T>C , CM000665.2:g.165786305T>C	GRCh38
NC_000003.11:g.165504093T>C , CM000665.1:g.165504093T>C	GRCh37
NC_000003.10:g.166986787T>C	NCBI36
NG_009031.1:g.56161A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1524A>G MANE Select	ENSP00000264381.3:p.Pro508=
ENST00000264381.7:c.1524A>G	ENSP00000264381.3:p.Pro508=
ENST00000479451.5:c.114A>G	ENSP00000418325.1:p.Pro38=
ENST00000482958.1:c.*30A>G	ENSP00000419804.1:n.*30A>G
ENST00000488954.1:c.114A>G	ENSP00000418504.1:p.Pro38=
ENST00000497011.5:c.1524A>G	ENSP00000419505.1:p.Pro508=
NM_000055.2:c.1524A>G	NP_000046.1:p.Pro508=
XM_005247685.1:c.1647A>G	XP_005247742.1:p.Pro549=
NM_000055.3:c.1524A>G	NP_000046.1:p.Pro508=
NR_137635.1:n.166A>G
NR_137636.1:n.1691A>G
NM_000055.4:c.1524A>G MANE Select	NP_000046.1:p.Pro508=
NR_137635.2:n.117A>G
NR_137636.2:n.1642A>G