Canonical Allele Identifier: CA355111292

Gene: BCHE

Linked Data

• ClinVar Variation Id: 3133358
• ClinVar RCV Id: RCV004426251
• MyVariant Identifiers: chr3:g.165547674T>A (hg19) ; chr3:g.165829886T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829886T>A , CM000665.2:g.165829886T>A	GRCh38
NC_000003.11:g.165547674T>A , CM000665.1:g.165547674T>A	GRCh37
NC_000003.10:g.167030368T>A	NCBI36
NG_009031.1:g.12580A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1148A>T MANE Select	ENSP00000264381.3:p.Lys383Ile
ENST00000264381.7:c.1148A>T	ENSP00000264381.3:p.Lys383Ile
ENST00000479451.5:c.107+7428A>T	ENSP00000418325.1:n.107+7428A>T
ENST00000482958.1:c.1148A>T	ENSP00000419804.1:p.Lys383Ile
ENST00000488954.1:c.107+7428A>T	ENSP00000418504.1:n.107+7428A>T
ENST00000497011.5:c.1148A>T	ENSP00000419505.1:p.Lys383Ile
NM_000055.2:c.1148A>T	NP_000046.1:p.Lys383Ile
XM_005247685.1:c.1271A>T	XP_005247742.1:p.Lys424Ile
NM_000055.3:c.1148A>T	NP_000046.1:p.Lys383Ile
NR_137635.1:n.159+7428A>T
NR_137636.1:n.1315A>T
NM_000055.4:c.1148A>T MANE Select	NP_000046.1:p.Lys383Ile
NR_137635.2:n.110+7428A>T
NR_137636.2:n.1266A>T