Canonical Allele Identifier: CA3108891536
Community Standard Title: NM_000055.4(BCHE):c.939T= (p.Pro313=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830095A= , CM000665.2:g.165830095A= GRCh38
NC_000003.11:g.165547883A= , CM000665.1:g.165547883A= GRCh37
NC_000003.10:g.167030577A= NCBI36
NG_009031.1:g.12371T=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.939T= MANE Select NP_000046.1:p.Pro313=
ENST00000264381.8:c.939T= MANE Select ENSP00000264381.3:p.Pro313=
NM_000055.2:c.939T= NP_000046.1:p.Pro313=
NM_000055.3:c.939T= NP_000046.1:p.Pro313=
NR_137635.1:n.159+7219T=
NR_137635.2:n.110+7219T=
NR_137636.1:n.1106T=
NR_137636.2:n.1057T=
ENST00000264381.7:c.939T= ENSP00000264381.3:p.Pro313=
ENST00000479451.5:c.107+7219T= ENSP00000418325.1:n.107+7219T=
ENST00000482958.1:c.939T= ENSP00000419804.1:p.Pro313=
ENST00000488954.1:c.107+7219T= ENSP00000418504.1:n.107+7219T=
ENST00000497011.5:c.939T= ENSP00000419505.1:p.Pro313=
XM_005247685.1:c.1062T= XP_005247742.1:p.Pro354=