LDH info

Canonical Allele Identifier: CA340834
Gene: SHH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8883
ClinVar RCV Id: RCV000009433
dbSNP Id: rs104894043

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155803613C>T , CM000669.2:g.155803613C>T GRCh38
NC_000007.13:g.155596307C>T , CM000669.1:g.155596307C>T GRCh37
NC_000007.12:g.155289068C>T NCBI36
NG_007504.2:g.13661G>A

Transcript Alleles

HGVS Amino-acid change
NM_000193.2:c.676G>A VV NP_000184.1:p.Ala226Thr
NM_000193.3:c.676G>A VV NP_000184.1:p.Ala226Thr
NM_001310462.1:c.301+2683G>A VV NP_001297391.1:p.=
NR_132318.1:n.471+2683G>A
NR_132319.1:n.471+2683G>A
XM_011516479.1:c.415G>A XP_011514781.1:p.Ala139Thr
XM_011516480.1:c.415G>A XP_011514782.1:p.Ala139Thr
XM_011516481.1:c.415G>A XP_011514783.1:p.Ala139Thr
XM_011516482.1:c.337G>A XP_011514784.1:p.Ala113Thr
XM_011516479.2:c.415G>A XP_011514781.1:p.Ala139Thr
XM_011516480.2:c.415G>A XP_011514782.1:p.Ala139Thr
NM_000193.4:c.676G>A VV MANE Preferred NP_000184.1:p.Ala226Thr
ENST00000297261.6:c.676G>A ENSP00000297261.2:p.Ala226Thr
ENST00000430104.5:c.301+2683G>A ENSP00000396621.1:p.=
ENST00000435425.1:c.301+2683G>A ENSP00000413871.1:p.=
ENST00000441114.5:c.301+2683G>A ENSP00000410546.1:p.=