Canonical Allele Identifier: CA3970804
Gene: RSPH4A HGNC NCBI

Linked Data

ClinVar Variation Id: 257052
dbSNP Id: rs79327004

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116617298G>T , CM000668.2:g.116617298G>T GRCh38
NC_000006.11:g.116938461G>T , CM000668.1:g.116938461G>T GRCh37
NC_000006.10:g.117045154G>T NCBI36
NG_012934.1:g.5820G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.675G>T MANE Select ENSP00000229554.5:p.Ser225=
ENST00000229554.9:c.675G>T ENSP00000229554.5:p.Ser225=
ENST00000368580.4:c.675G>T ENSP00000357569.4:p.Ser225=
ENST00000368581.8:c.675G>T ENSP00000357570.4:p.Ser225=
NM_001010892.2:c.675G>T NP_001010892.1:p.Ser225=
NM_001161664.1:c.675G>T NP_001155136.1:p.Ser225=
XM_006715469.2:c.675G>T XP_006715532.1:p.Ser225=
XM_011535791.1:c.675G>T XP_011534093.1:p.Ser225=
XM_011535792.1:c.675G>T XP_011534094.1:p.Ser225=
XR_942416.1:n.3326G>T
XM_017010826.1:c.675G>T XP_016866315.1:p.Ser225=
NM_001010892.3:c.675G>T MANE Select NP_001010892.1:p.Ser225=
NM_001161664.2:c.675G>T NP_001155136.1:p.Ser225=