LDH info

Canonical Allele Identifier: CA16040927
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371648
ClinVar RCV Id: RCV000412019
dbSNP Id: rs1057517439

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830926del , CM000665.2:g.165830926del GRCh38
NC_000003.11:g.165548714del , CM000665.1:g.165548714del GRCh37
NC_000003.10:g.167031408del NCBI36
NG_009031.1:g.11542del

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.110del VV NP_000046.1:p.Lys37ArgfsTer8
XM_005247685.1:c.233del XP_005247742.1:p.Lys78ArgfsTer8
NM_000055.3:c.110del VV NP_000046.1:p.Lys37ArgfsTer8
NR_137635.1:n.159+6390del
NR_137636.1:n.277del
NM_000055.4:c.110del VV MANE Preferred NP_000046.1:p.Lys37ArgfsTer8
ENST00000264381.7:c.110del ENSP00000264381.3:p.Lys37ArgfsTer8
ENST00000479451.5:n.107+6390del ENSP00000418325.1:p.=
ENST00000482958.1:c.110del ENSP00000419804.1:p.Lys37ArgfsTer8
ENST00000488954.1:n.107+6390del ENSP00000418504.1:p.=
ENST00000497011.5:c.110del ENSP00000419505.1:p.Lys37ArgfsTer8