LDH info

Canonical Allele Identifier: CA340637
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7123
dbSNP Id: rs75549581

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587829G>A , CM000669.2:g.117587829G>A GRCh38
NC_000007.13:g.117227883G>A , CM000669.1:g.117227883G>A GRCh37
NC_000007.12:g.117015119G>A NCBI36
NG_016465.4:g.127046G>A , LRG_663:g.127046G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1675G>A , LRG_663t1:c.1675G>A NP_000483.3:p.Ala559Thr
XM_011515751.1:c.1765G>A XP_011514053.1:p.Ala589Thr
XM_011515752.1:c.1765G>A XP_011514054.1:p.Ala589Thr
XM_011515753.1:c.1432G>A XP_011514055.1:p.Ala478Thr
XM_011515754.1:c.1432G>A XP_011514056.1:p.Ala478Thr
NM_000492.4:c.1675G>A VV NP_000483.3:p.Ala559Thr
ENST00000003084.10:c.1675G>A ENSP00000003084.6:p.Ala559Thr
ENST00000426809.5:n.1585G>A ENSP00000389119.1:p.Ala529Thr