Canonical Allele Identifier: CA365413325

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1318835215
• MyVariant Identifiers: chr6:g.116953516C>T (hg19) ; chr6:g.116632353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632353C>T , CM000668.2:g.116632353C>T	GRCh38
NC_000006.11:g.116953516C>T , CM000668.1:g.116953516C>T	GRCh37
NC_000006.10:g.117060209C>T	NCBI36
NG_012934.1:g.20875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2063C>T MANE Select	ENSP00000229554.5:p.Ala688Val
ENST00000229554.9:c.2063C>T	ENSP00000229554.5:p.Ala688Val
ENST00000368580.4:c.1322C>T	ENSP00000357569.4:p.Ala441Val
ENST00000368581.8:c.*124C>T	ENSP00000357570.4:n.*124C>T
NM_001010892.2:c.2063C>T	NP_001010892.1:p.Ala688Val
NM_001161664.1:c.*124C>T	NP_001155136.1:n.*124C>T
XM_006715469.2:c.*124C>T	XP_006715532.1:n.*124C>T
XM_011535791.1:c.2063C>T	XP_011534093.1:p.Ala688Val
XM_011535792.1:c.2063C>T	XP_011534094.1:p.Ala688Val
XM_017010826.1:c.*124C>T	XP_016866315.1:n.*124C>T
NM_001010892.3:c.2063C>T MANE Select	NP_001010892.1:p.Ala688Val
NM_001161664.2:c.*124C>T	NP_001155136.1:n.*124C>T