LDH info

Canonical Allele Identifier: CA16041017
Gene: PEX7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371080
ClinVar RCV Id: RCV000411695
dbSNP Id: rs1057516989

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866734G>A , CM000668.2:g.136866734G>A GRCh38
NC_000006.11:g.137187872G>A , CM000668.1:g.137187872G>A GRCh37
NC_000006.10:g.137229565G>A NCBI36
NG_008462.1:g.49155G>A

Transcript Alleles

HGVS Amino-acid change
NM_000288.3:c.633+1G>A VV NP_000279.1:p.=
XM_005267019.3:c.519+1G>A XP_005267076.1:p.=
XM_006715502.1:c.340-3156G>A XP_006715565.1:p.=
XM_011535900.1:c.526+20553G>A XP_011534202.1:p.=
XM_005267019.4:c.519+1G>A XP_005267076.1:p.=
XM_006715502.2:c.340-3156G>A XP_006715565.1:p.=
XM_017010934.2:c.526+20553G>A XP_016866423.1:p.=
NM_000288.4:c.633+1G>A VV MANE Preferred NP_000279.1:p.=
ENST00000318471.4:c.633+1G>A ENSP00000315680.3:p.=
ENST00000541292.5:c.633+1G>A ENSP00000441004.1:p.=