Canonical Allele Identifier: CA365395243
Gene: RSPH4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116617240T>G , CM000668.2:g.116617240T>G GRCh38
NC_000006.11:g.116938403T>G , CM000668.1:g.116938403T>G GRCh37
NC_000006.10:g.117045096T>G NCBI36
NG_012934.1:g.5762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.617T>G MANE Select ENSP00000229554.5:p.Met206Arg
ENST00000229554.9:c.617T>G ENSP00000229554.5:p.Met206Arg
ENST00000368580.4:c.617T>G ENSP00000357569.4:p.Met206Arg
ENST00000368581.8:c.617T>G ENSP00000357570.4:p.Met206Arg
NM_001010892.2:c.617T>G NP_001010892.1:p.Met206Arg
NM_001161664.1:c.617T>G NP_001155136.1:p.Met206Arg
XM_006715469.2:c.617T>G XP_006715532.1:p.Met206Arg
XM_011535791.1:c.617T>G XP_011534093.1:p.Met206Arg
XM_011535792.1:c.617T>G XP_011534094.1:p.Met206Arg
XR_942416.1:n.3268T>G
XM_017010826.1:c.617T>G XP_016866315.1:p.Met206Arg
NM_001010892.3:c.617T>G MANE Select NP_001010892.1:p.Met206Arg
NM_001161664.2:c.617T>G NP_001155136.1:p.Met206Arg