Canonical Allele Identifier: CA355111013

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829761T>A , CM000665.2:g.165829761T>A	GRCh38
NC_000003.11:g.165547549T>A , CM000665.1:g.165547549T>A	GRCh37
NC_000003.10:g.167030243T>A	NCBI36
NG_009031.1:g.12705A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1273A>T MANE Select	NP_000046.1:p.Asn425Tyr
ENST00000264381.8:c.1273A>T MANE Select	ENSP00000264381.3:p.Asn425Tyr
NM_000055.2:c.1273A>T	NP_000046.1:p.Asn425Tyr
NM_000055.3:c.1273A>T	NP_000046.1:p.Asn425Tyr
NR_137635.1:n.159+7553A>T
NR_137635.2:n.110+7553A>T
NR_137636.1:n.1440A>T
NR_137636.2:n.1391A>T
ENST00000264381.7:c.1273A>T	ENSP00000264381.3:p.Asn425Tyr
ENST00000479451.5:c.107+7553A>T	ENSP00000418325.1:n.107+7553A>T
ENST00000482958.1:c.1273A>T	ENSP00000419804.1:p.Asn425Tyr
ENST00000488954.1:c.107+7553A>T	ENSP00000418504.1:n.107+7553A>T
ENST00000497011.5:c.1273A>T	ENSP00000419505.1:p.Asn425Tyr
XM_005247685.1:c.1396A>T	XP_005247742.1:p.Asn466Tyr