Canonical Allele Identifier: CA3620212
Gene: PXDC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.3737105C>T
GRCh37 chr6:g.3737339C>T
Revel Score:
ENST00000380277 0.217
ENST00000380283 (MANE Select) 0.169
gnomAD v2:
6:3737339 C / T
gnomAD v3:
6:3737105 C / T
gnomAD v4:
chr6-3737105-C-T
Joint Max Group AF 0.00040217 (AMR)
Genomes Max Group AF 0.00040291 (AMR)
Exomes Max Group AF 0.00033268 (AMR)
ClinVar Allele:
2333204
ClinVar RCV:
RCV004194492
ClinVar Variation:
2351373
dbSNP:
532420591
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3737105C>T , CM000668.2:g.3737105C>T GRCh38
NC_000006.11:g.3737339C>T , CM000668.1:g.3737339C>T GRCh37
NC_000006.10:g.3682338C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380283.5:c.440G>A MANE Select ENSP00000369636.5:p.Ser147Asn
ENST00000380277.6:c.283G>A
ENST00000380283.4:c.440G>A ENSP00000369636.4:p.Ser147Asn
ENST00000477592.2:n.436G>A
NM_183373.3:c.440G>A NP_899229.2:p.Ser147Asn
XM_011514393.1:c.257G>A XP_011512695.1:p.Ser86Asn
XM_011514393.3:c.257G>A XP_011512695.1:p.Ser86Asn
XR_001743252.2:n.1320G>A
NM_183373.4:c.440G>A MANE Select NP_899229.2:p.Ser147Asn
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