Canonical Allele Identifier: CA3578748
Gene: PRELID1 HGNC NCBI
MXD3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177306544C>A
GRCh37 chr5:g.176733545C>A
Revel Score:
ENST00000303204 (MANE Select) 0.078
ENST00000503216 0.078
ENST00000503853 0.078
gnomAD v2:
5:176733545 C / A
gnomAD v3:
5:177306544 C / A
gnomAD v4:
chr5-177306544-C-A
Joint Max Group AF 0.00030562 (SAS)
Exomes Max Group AF 0.00031261 (SAS)
ClinVar RCV:
RCV004125800
ClinVar Variation:
2271082
dbSNP:
778485653
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177306544C>A , CM000667.2:g.177306544C>A GRCh38
NC_000005.9:g.176733545C>A , CM000667.1:g.176733545C>A GRCh37
NC_000005.8:g.176666151C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303204.9:c.634C>A (PRELID1) MANE Select ENSP00000302114.4:p.Gln212Lys
ENST00000303204.8:c.634C>A (PRELID1) ENSP00000302114.4:p.Gln212Lys
ENST00000427908.6:c.*575G>T (MXD3) ENSP00000416921.2:n.*575G>T
ENST00000503216.5:c.601C>A (PRELID1) ENSP00000427097.1:p.Gln201Lys
ENST00000503473.5:n.1353+1237G>T (MXD3)
ENST00000503853.1:c.538C>A (PRELID1)
ENST00000504594.5:c.*260C>A (PRELID1) ENSP00000421657.1:n.*260C>A
ENST00000509339.1:n.282+1237G>T (MXD3)
NM_001142935.1:c.*575G>T (MXD3) NP_001136407.1:n.*575G>T
NM_001271828.1:c.601C>A (PRELID1) NP_001258757.1:p.Gln201Lys
NM_013237.3:c.634C>A (PRELID1) NP_037369.1:p.Gln212Lys
NM_013237.4:c.634C>A (PRELID1) MANE Select NP_037369.1:p.Gln212Lys
NM_001142935.2:c.*575G>T (MXD3) NP_001136407.1:n.*575G>T
NM_001271828.2:c.601C>A (PRELID1) NP_001258757.1:p.Gln201Lys
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