Canonical Allele Identifier: CA355111057

Gene: BCHE

Linked Data

• gnomAD v3: 3-165829783-C-G
• gnomAD v4: 3-165829783-C-G
• MyVariant Identifiers: chr3:g.165547571C>G (hg19) ; chr3:g.165829783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829783C>G , CM000665.2:g.165829783C>G	GRCh38
NC_000003.11:g.165547571C>G , CM000665.1:g.165547571C>G	GRCh37
NC_000003.10:g.167030265C>G	NCBI36
NG_009031.1:g.12683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1251G>C MANE Select	ENSP00000264381.3:p.Leu417Phe
ENST00000264381.7:c.1251G>C	ENSP00000264381.3:p.Leu417Phe
ENST00000479451.5:c.107+7531G>C	ENSP00000418325.1:n.107+7531G>C
ENST00000482958.1:c.1251G>C	ENSP00000419804.1:p.Leu417Phe
ENST00000488954.1:c.107+7531G>C	ENSP00000418504.1:n.107+7531G>C
ENST00000497011.5:c.1251G>C	ENSP00000419505.1:p.Leu417Phe
NM_000055.2:c.1251G>C	NP_000046.1:p.Leu417Phe
XM_005247685.1:c.1374G>C	XP_005247742.1:p.Leu458Phe
NM_000055.3:c.1251G>C	NP_000046.1:p.Leu417Phe
NR_137635.1:n.159+7531G>C
NR_137636.1:n.1418G>C
NM_000055.4:c.1251G>C MANE Select	NP_000046.1:p.Leu417Phe
NR_137635.2:n.110+7531G>C
NR_137636.2:n.1369G>C