Canonical Allele Identifier: CA355111831
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.899T>G MANE Select ENSP00000264381.3:p.Ile300Ser
ENST00000264381.7:c.899T>G ENSP00000264381.3:p.Ile300Ser
ENST00000479451.5:n.107+7179T>G ENSP00000418325.1:n.107+7179T>G
ENST00000482958.1:c.899T>G ENSP00000419804.1:p.Ile300Ser
ENST00000488954.1:n.107+7179T>G ENSP00000418504.1:n.107+7179T>G
ENST00000497011.5:c.899T>G ENSP00000419505.1:p.Ile300Ser
NM_000055.2:c.899T>G NP_000046.1:p.Ile300Ser
XM_005247685.1:c.1022T>G XP_005247742.1:p.Ile341Ser
NM_000055.3:c.899T>G NP_000046.1:p.Ile300Ser
NR_137635.1:n.159+7179T>G
NR_137636.1:n.1066T>G
NM_000055.4:c.899T>G MANE Select NP_000046.1:p.Ile300Ser
NR_137635.2:n.110+7179T>G
NR_137636.2:n.1017T>G