LDH info

Canonical Allele Identifier: CA15364865
Gene: ELL2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10069748

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95905518T>C , CM000667.2:g.95905518T>C GRCh38
NC_000005.9:g.95241222T>C , CM000667.1:g.95241222T>C GRCh37
NC_000005.8:g.95266978T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_012081.5:c.741+1005A>G VV NP_036213.2:p.=
XM_006714575.1:c.576+1005A>G XP_006714638.1:p.=
XM_011543280.1:c.345+1005A>G XP_011541582.1:p.=
XM_006714575.3:c.576+1005A>G XP_006714638.1:p.=
XM_017009239.1:c.741+1005A>G XP_016864728.1:p.=
XM_017009240.2:c.345+1005A>G XP_016864729.1:p.=
XM_017009241.2:c.345+1005A>G XP_016864730.1:p.=
XM_017009242.1:c.345+1005A>G XP_016864731.1:p.=
XM_017009243.2:c.186+1005A>G XP_016864732.1:p.=
NM_012081.6:c.741+1005A>G VV MANE Preferred NP_036213.2:p.=
ENST00000237853.8:c.741+1005A>G ENSP00000237853.4:p.=
ENST00000513343.1:c.196-4438A>G ENSP00000423915.1:p.=