Canonical Allele Identifier: CA451904608

Gene: RSPH4A

Linked Data

• dbSNP Id: rs750920874
• gnomAD v4: 6-116632429-T-C
• MyVariant Identifiers: chr6:g.116953592T>C (hg19) ; chr6:g.116632429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632429T>C , CM000668.2:g.116632429T>C	GRCh38
NC_000006.11:g.116953592T>C , CM000668.1:g.116953592T>C	GRCh37
NC_000006.10:g.117060285T>C	NCBI36
NG_012934.1:g.20951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2139T>C MANE Select	ENSP00000229554.5:p.Asp713=
ENST00000229554.9:c.2139T>C	ENSP00000229554.5:p.Asp713=
ENST00000368580.4:c.1398T>C	ENSP00000357569.4:p.Asp466=
ENST00000368581.8:c.*200T>C	ENSP00000357570.4:n.*200T>C
NM_001010892.2:c.2139T>C	NP_001010892.1:p.Asp713=
NM_001161664.1:c.*200T>C	NP_001155136.1:n.*200T>C
XM_006715469.2:c.*200T>C	XP_006715532.1:n.*200T>C
XM_011535791.1:c.2139T>C	XP_011534093.1:p.Asp713=
XM_011535792.1:c.2139T>C	XP_011534094.1:p.Asp713=
XM_017010826.1:c.*200T>C	XP_016866315.1:n.*200T>C
NM_001010892.3:c.2139T>C MANE Select	NP_001010892.1:p.Asp713=
NM_001161664.2:c.*200T>C	NP_001155136.1:n.*200T>C