Canonical Allele Identifier: CA355113415
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830880T>C , CM000665.2:g.165830880T>C GRCh38
NC_000003.11:g.165548668T>C , CM000665.1:g.165548668T>C GRCh37
NC_000003.10:g.167031362T>C NCBI36
NG_009031.1:g.11586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.154A>G MANE Select ENSP00000264381.3:p.Thr52Ala
ENST00000264381.7:c.154A>G ENSP00000264381.3:p.Thr52Ala
ENST00000479451.5:c.107+6434A>G ENSP00000418325.1:n.107+6434A>G
ENST00000482958.1:c.154A>G ENSP00000419804.1:p.Thr52Ala
ENST00000488954.1:c.107+6434A>G ENSP00000418504.1:n.107+6434A>G
ENST00000497011.5:c.154A>G ENSP00000419505.1:p.Thr52Ala
NM_000055.2:c.154A>G NP_000046.1:p.Thr52Ala
XM_005247685.1:c.277A>G XP_005247742.1:p.Thr93Ala
NM_000055.3:c.154A>G NP_000046.1:p.Thr52Ala
NR_137635.1:n.159+6434A>G
NR_137636.1:n.321A>G
NM_000055.4:c.154A>G MANE Select NP_000046.1:p.Thr52Ala
NR_137635.2:n.110+6434A>G
NR_137636.2:n.272A>G