Canonical Allele Identifier: CA2692396

Gene: BCHE

Linked Data

• dbSNP Id: rs751075598
• ExAC: 3:165547852 C / T
• gnomAD v2: 3-165547852-C-T
• gnomAD v4: 3-165830064-C-T
• MyVariant Identifiers: chr3:g.165547852C>T (hg19) ; chr3:g.165830064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830064C>T , CM000665.2:g.165830064C>T	GRCh38
NC_000003.11:g.165547852C>T , CM000665.1:g.165547852C>T	GRCh37
NC_000003.10:g.167030546C>T	NCBI36
NG_009031.1:g.12402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.970G>A MANE Select	ENSP00000264381.3:p.Gly324Ser
ENST00000264381.7:c.970G>A	ENSP00000264381.3:p.Gly324Ser
ENST00000479451.5:c.107+7250G>A	ENSP00000418325.1:n.107+7250G>A
ENST00000482958.1:c.970G>A	ENSP00000419804.1:p.Gly324Ser
ENST00000488954.1:c.107+7250G>A	ENSP00000418504.1:n.107+7250G>A
ENST00000497011.5:c.970G>A	ENSP00000419505.1:p.Gly324Ser
NM_000055.2:c.970G>A	NP_000046.1:p.Gly324Ser
XM_005247685.1:c.1093G>A	XP_005247742.1:p.Gly365Ser
NM_000055.3:c.970G>A	NP_000046.1:p.Gly324Ser
NR_137635.1:n.159+7250G>A
NR_137636.1:n.1137G>A
NM_000055.4:c.970G>A MANE Select	NP_000046.1:p.Gly324Ser
NR_137635.2:n.110+7250G>A
NR_137636.2:n.1088G>A