Canonical Allele Identifier: CA552320615
Gene: ODAPH HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.75556520C>T
GRCh37 chr4:g.76481730C>T
gnomAD v2:
4:76481730 C / T
gnomAD v3:
4:75556520 C / T
gnomAD v4:
chr4-75556520-C-T
Joint Max Group AF 0.00001261 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001216 (NFE)
dbSNP:
17000647
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.75556520C>T , CM000666.2:g.75556520C>T GRCh38
NC_000004.11:g.76481730C>T , CM000666.1:g.76481730C>T GRCh37
NC_000004.10:g.76700754C>T NCBI36
NG_032974.1:g.5473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311623.9:c.67+371C>T MANE Select ENSP00000311307.5:n.67+371C>T
ENST00000311623.8:c.67+371C>T ENSP00000311307.4:n.67+371C>T
ENST00000435974.2:c.68-21C>T ENSP00000406925.2:n.68-21C>T
ENST00000511093.5:c.67+371C>T ENSP00000421429.1:n.67+371C>T
ENST00000514064.1:n.103-21C>T
ENST00000616557.1:c.67+371C>T ENSP00000479147.1:n.67+371C>T
NM_001206981.1:c.68-21C>T NP_001193910.1:n.68-21C>T
NM_001257072.1:c.67+371C>T NP_001244001.1:n.67+371C>T
NM_178497.3:c.67+371C>T NP_848592.2:n.67+371C>T
NR_046429.1:n.103-21C>T
NR_046430.1:n.102+371C>T
XM_011531668.1:c.68-21C>T XP_011529970.1:n.68-21C>T
XM_011531668.2:c.68-21C>T XP_011529970.1:n.68-21C>T
NM_001206981.2:c.68-21C>T NP_001193910.1:n.68-21C>T
NM_178497.5:c.67+371C>T MANE Select NP_848592.2:n.67+371C>T
NR_046429.2:n.85-21C>T
NR_046430.2:n.84+371C>T
NM_001257072.2:c.67+371C>T NP_001244001.1:n.67+371C>T
NR_046429.3:n.85-21C>T
NR_046430.3:n.84+371C>T
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