Canonical Allele Identifier: CA87405072

Gene: BCHE

Linked Data

• dbSNP Id: rs199551421
• gnomAD v2: 3-165503953-G-T
• MyVariant Identifiers: chr3:g.165503953G>T (hg19) ; chr3:g.165786165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786165G>T , CM000665.2:g.165786165G>T	GRCh38
NC_000003.11:g.165503953G>T , CM000665.1:g.165503953G>T	GRCh37
NC_000003.10:g.166986647G>T	NCBI36
NG_009031.1:g.56301C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1664C>A MANE Select	ENSP00000264381.3:p.Pro555Gln
ENST00000264381.7:c.1664C>A	ENSP00000264381.3:p.Pro555Gln
ENST00000479451.5:c.254C>A	ENSP00000418325.1:p.Pro85Gln
ENST00000482958.1:c.*170C>A	ENSP00000419804.1:n.*170C>A
ENST00000488954.1:c.254C>A	ENSP00000418504.1:p.Pro85Gln
ENST00000497011.5:c.1664C>A	ENSP00000419505.1:p.Pro555Gln
NM_000055.2:c.1664C>A	NP_000046.1:p.Pro555Gln
XM_005247685.1:c.1787C>A	XP_005247742.1:p.Pro596Gln
NM_000055.3:c.1664C>A	NP_000046.1:p.Pro555Gln
NR_137635.1:n.306C>A
NR_137636.1:n.1831C>A
NM_000055.4:c.1664C>A MANE Select	NP_000046.1:p.Pro555Gln
NR_137635.2:n.257C>A
NR_137636.2:n.1782C>A