Canonical Allele Identifier: CA2655228892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913143G>A , CM000684.2:g.18913143G>A GRCh38
NC_000022.10:g.18900656G>A , CM000684.1:g.18900656G>A GRCh37
NC_000022.9:g.17280656G>A NCBI36
NG_008226.2:g.28411C>T
NG_009052.1:g.11921G>A
NG_008226.3:g.28411C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357068.11:c.*32C>T (PRODH) MANE Select ENSP00000349577.6:n.*32C>T
ENST00000638240.1:c.513+2115G>A ENSP00000492446.1:n.513+2115G>A
ENST00000313755.9:n.2600C>T (PRODH)
ENST00000334029.6:c.*32C>T (PRODH) ENSP00000334726.2:n.*32C>T
ENST00000357068.10:c.*32C>T (PRODH) ENSP00000349577.6:n.*32C>T
ENST00000420436.5:c.*32C>T (PRODH) ENSP00000410805.1:n.*32C>T
ENST00000429300.5:n.2206C>T (PRODH)
ENST00000482858.5:n.4315C>T (PRODH)
ENST00000483718.5:c.*1785G>A (DGCR6) ENSP00000467483.1:n.*1785G>A
ENST00000491604.5:n.2744C>T (PRODH)
ENST00000610940.4:c.*32C>T (PRODH) ENSP00000480347.1:n.*32C>T
NM_001195226.1:c.*32C>T (PRODH) NP_001182155.1:n.*32C>T
NM_016335.4:c.*32C>T (PRODH) NP_057419.4:n.*32C>T
XM_011530278.1:c.*32C>T (PRODH) XP_011528580.1:n.*32C>T
XM_011530279.1:c.*32C>T (PRODH) XP_011528581.1:n.*32C>T
XR_937876.1:n.1902C>T (PRODH)
NM_005675.5:c.*1454G>A (DGCR6) NP_005666.2:n.*1454G>A
NM_001195226.2:c.*32C>T (PRODH) NP_001182155.2:n.*32C>T
NM_016335.5:c.*32C>T (PRODH) NP_057419.5:n.*32C>T
NM_016335.6:c.*32C>T (PRODH) MANE Select NP_057419.5:n.*32C>T