Canonical Allele Identifier: CA377336797
Gene: DLG5 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77856847T>G , CM000672.2:g.77856847T>G GRCh38
NC_000010.10:g.79616605T>G , CM000672.1:g.79616605T>G GRCh37
NC_000010.9:g.79286611T>G NCBI36
NG_011484.1:g.74744A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372391.7:c.419A>C MANE Select ENSP00000361467.2:p.Gln140Pro
ENST00000372391.6:c.419A>C ENSP00000361467.2:p.Gln140Pro
ENST00000468332.6:c.194A>C ENSP00000473298.1:p.Gln65Pro
ENST00000475613.6:n.93+12252A>C
NM_004747.3:c.419A>C NP_004738.3:p.Gln140Pro
XM_005270276.3:c.419A>C XP_005270333.1:p.Gln140Pro
XM_006718056.2:c.419A>C XP_006718119.1:p.Gln140Pro
XM_006718057.2:c.419A>C XP_006718120.1:p.Gln140Pro
XM_011540341.1:c.242A>C XP_011538643.1:p.Gln81Pro
XM_011540342.1:c.149A>C XP_011538644.1:p.Gln50Pro
XM_011540343.1:c.89A>C XP_011538645.1:p.Gln30Pro
XM_011540344.1:c.83A>C XP_011538646.1:p.Gln28Pro
XM_011540345.1:c.-47A>C XP_011538647.1:n.-47A>C
XM_011540346.1:c.419A>C XP_011538648.1:p.Gln140Pro
XR_945874.1:n.450A>C
XM_005270276.4:c.419A>C XP_005270333.1:p.Gln140Pro
XM_006718056.3:c.419A>C XP_006718119.1:p.Gln140Pro
XM_006718057.3:c.419A>C XP_006718120.1:p.Gln140Pro
XM_011540341.3:c.242A>C XP_011538643.1:p.Gln81Pro
XM_011540344.2:c.83A>C XP_011538646.1:p.Gln28Pro
XM_011540346.2:c.419A>C XP_011538648.1:p.Gln140Pro
XM_017016913.1:c.137A>C XP_016872402.1:p.Gln46Pro
XM_017016914.1:c.89A>C XP_016872403.1:p.Gln30Pro
XR_945874.2:n.461A>C
NM_004747.4:c.419A>C MANE Select NP_004738.3:p.Gln140Pro