Canonical Allele Identifier: CA1417711639
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165786213A= , CM000665.2:g.165786213A= GRCh38
NC_000003.11:g.165504001A= , CM000665.1:g.165504001A= GRCh37
NC_000003.10:g.166986695A= NCBI36
NG_009031.1:g.56253T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1616T= MANE Select ENSP00000264381.3:p.Met539=
ENST00000264381.7:c.1616T= ENSP00000264381.3:p.Met539=
ENST00000479451.5:c.206T= ENSP00000418325.1:p.Met69=
ENST00000482958.1:c.*122T= ENSP00000419804.1:n.*122T=
ENST00000488954.1:c.206T= ENSP00000418504.1:p.Met69=
ENST00000497011.5:c.1616T= ENSP00000419505.1:p.Met539=
NM_000055.2:c.1616T= NP_000046.1:p.Met539=
XM_005247685.1:c.1739T= XP_005247742.1:p.Met580=
NM_000055.3:c.1616T= NP_000046.1:p.Met539=
NR_137635.1:n.258T=
NR_137636.1:n.1783T=
NM_000055.4:c.1616T= MANE Select NP_000046.1:p.Met539=
NR_137635.2:n.209T=
NR_137636.2:n.1734T=