LDH info

Canonical Allele Identifier: CA14663495
Gene: ELSPBP1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs3936340

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48024325C>T , CM000681.2:g.48024325C>T GRCh38
NC_000019.9:g.48527582C>T , CM000681.1:g.48527582C>T GRCh37
NC_000019.8:g.53219394C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_022142.4:c.*8-627C>T VV NP_071425.3:p.=
XM_006723322.2:c.*8-627C>T XP_006723385.1:p.=
XM_017027130.1:c.*8-627C>T XP_016882619.1:p.=
NM_022142.5:c.*8-627C>T VV MANE Preferred NP_071425.3:p.=
ENST00000339841.6:c.*8-627C>T ENSP00000340660.2:p.=
ENST00000593413.1:n.239-606C>T ENSP00000470551.1:p.=
ENST00000593782.1:n.514-627C>T
ENST00000597519.5:c.*8-627C>T ENSP00000471690.1:p.=
ENST00000619003.4:c.*13-627C>T ENSP00000481506.1:p.=