Canonical Allele Identifier: CA355112395

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830400-C-A
• COSMIC: COSM6163565
• MyVariant Identifiers: chr3:g.165548188C>A (hg19) ; chr3:g.165830400C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830400C>A , CM000665.2:g.165830400C>A	GRCh38
NC_000003.11:g.165548188C>A , CM000665.1:g.165548188C>A	GRCh37
NC_000003.10:g.167030882C>A	NCBI36
NG_009031.1:g.12066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.634G>T MANE Select	ENSP00000264381.3:p.Ala212Ser
ENST00000264381.7:c.634G>T	ENSP00000264381.3:p.Ala212Ser
ENST00000479451.5:c.107+6914G>T	ENSP00000418325.1:n.107+6914G>T
ENST00000482958.1:c.634G>T	ENSP00000419804.1:p.Ala212Ser
ENST00000488954.1:c.107+6914G>T	ENSP00000418504.1:n.107+6914G>T
ENST00000497011.5:c.634G>T	ENSP00000419505.1:p.Ala212Ser
NM_000055.2:c.634G>T	NP_000046.1:p.Ala212Ser
XM_005247685.1:c.757G>T	XP_005247742.1:p.Ala253Ser
NM_000055.3:c.634G>T	NP_000046.1:p.Ala212Ser
NR_137635.1:n.159+6914G>T
NR_137636.1:n.801G>T
NM_000055.4:c.634G>T MANE Select	NP_000046.1:p.Ala212Ser
NR_137635.2:n.110+6914G>T
NR_137636.2:n.752G>T