Canonical Allele Identifier: CA87410373

Gene: BCHE

Linked Data

• ClinVar Variation Id: 554921
• ClinVar RCV Id: RCV000670637
• dbSNP Id: rs979653503
• gnomAD v3: 3-165830727-C-G
• gnomAD v4: 3-165830727-C-G
• MyVariant Identifiers: chr3:g.165548515C>G (hg19) ; chr3:g.165830727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830727C>G , CM000665.2:g.165830727C>G	GRCh38
NC_000003.11:g.165548515C>G , CM000665.1:g.165548515C>G	GRCh37
NC_000003.10:g.167031209C>G	NCBI36
NG_009031.1:g.11739G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.307G>C MANE Select	ENSP00000264381.3:p.Gly103Arg
ENST00000264381.7:c.307G>C	ENSP00000264381.3:p.Gly103Arg
ENST00000479451.5:c.107+6587G>C	ENSP00000418325.1:n.107+6587G>C
ENST00000482958.1:c.307G>C	ENSP00000419804.1:p.Gly103Arg
ENST00000488954.1:c.107+6587G>C	ENSP00000418504.1:n.107+6587G>C
ENST00000497011.5:c.307G>C	ENSP00000419505.1:p.Gly103Arg
NM_000055.2:c.307G>C	NP_000046.1:p.Gly103Arg
XM_005247685.1:c.430G>C	XP_005247742.1:p.Gly144Arg
NM_000055.3:c.307G>C	NP_000046.1:p.Gly103Arg
NR_137635.1:n.159+6587G>C
NR_137636.1:n.474G>C
NM_000055.4:c.307G>C MANE Select	NP_000046.1:p.Gly103Arg
NR_137635.2:n.110+6587G>C
NR_137636.2:n.425G>C