Canonical Allele Identifier: CA436968915
Gene: BCHE HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.165547919A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830131A>C , CM000665.2:g.165830131A>C GRCh38
NC_000003.11:g.165547919A>C , CM000665.1:g.165547919A>C GRCh37
NC_000003.10:g.167030613A>C NCBI36
NG_009031.1:g.12335T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.903T>G MANE Select ENSP00000264381.3:p.Leu301=
ENST00000264381.7:c.903T>G ENSP00000264381.3:p.Leu301=
ENST00000479451.5:n.107+7183T>G ENSP00000418325.1:n.107+7183T>G
ENST00000482958.1:c.903T>G ENSP00000419804.1:p.Leu301=
ENST00000488954.1:n.107+7183T>G ENSP00000418504.1:n.107+7183T>G
ENST00000497011.5:c.903T>G ENSP00000419505.1:p.Leu301=
NM_000055.2:c.903T>G NP_000046.1:p.Leu301=
XM_005247685.1:c.1026T>G XP_005247742.1:p.Leu342=
NM_000055.3:c.903T>G NP_000046.1:p.Leu301=
NR_137635.1:n.159+7183T>G
NR_137636.1:n.1070T>G
NM_000055.4:c.903T>G MANE Select NP_000046.1:p.Leu301=
NR_137635.2:n.110+7183T>G
NR_137636.2:n.1021T>G