Canonical Allele Identifier: CA2692583

Gene: BCHE

Linked Data

• ClinVar Variation Id: 547170
• ClinVar RCV Id: RCV000659258
• dbSNP Id: rs751910853
• ExAC: 3:165548820 A / G
• gnomAD v2: 3-165548820-A-G
• gnomAD v4: 3-165831032-A-G
• MyVariant Identifiers: chr3:g.165548820A>G (hg19) ; chr3:g.165831032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831032A>G , CM000665.2:g.165831032A>G	GRCh38
NC_000003.11:g.165548820A>G , CM000665.1:g.165548820A>G	GRCh37
NC_000003.10:g.167031514A>G	NCBI36
NG_009031.1:g.11434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.2T>C MANE Select	ENSP00000264381.3:p.Met1Thr
ENST00000264381.7:c.2T>C	ENSP00000264381.3:p.Met1Thr
ENST00000479451.5:c.107+6282T>C	ENSP00000418325.1:n.107+6282T>C
ENST00000482958.1:c.2T>C	ENSP00000419804.1:p.Met1Thr
ENST00000488954.1:c.107+6282T>C	ENSP00000418504.1:n.107+6282T>C
ENST00000497011.5:c.2T>C	ENSP00000419505.1:p.Met1Thr
NM_000055.2:c.2T>C	NP_000046.1:p.Met1Thr
XM_005247685.1:c.125T>C	XP_005247742.1:p.Met42Thr
NM_000055.3:c.2T>C	NP_000046.1:p.Met1Thr
NR_137635.1:n.159+6282T>C
NR_137636.1:n.169T>C
NM_000055.4:c.2T>C MANE Select	NP_000046.1:p.Met1Thr
NR_137635.2:n.110+6282T>C
NR_137636.2:n.120T>C