Canonical Allele Identifier: CA365413644

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1343722988
• gnomAD v2: 6-116953586-G-C
• gnomAD v4: 6-116632423-G-C
• MyVariant Identifiers: chr6:g.116953586G>C (hg19) ; chr6:g.116632423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632423G>C , CM000668.2:g.116632423G>C	GRCh38
NC_000006.11:g.116953586G>C , CM000668.1:g.116953586G>C	GRCh37
NC_000006.10:g.117060279G>C	NCBI36
NG_012934.1:g.20945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2133G>C MANE Select	ENSP00000229554.5:p.Glu711Asp
ENST00000229554.9:c.2133G>C	ENSP00000229554.5:p.Glu711Asp
ENST00000368580.4:c.1392G>C	ENSP00000357569.4:p.Glu464Asp
ENST00000368581.8:c.*194G>C	ENSP00000357570.4:n.*194G>C
NM_001010892.2:c.2133G>C	NP_001010892.1:p.Glu711Asp
NM_001161664.1:c.*194G>C	NP_001155136.1:n.*194G>C
XM_006715469.2:c.*194G>C	XP_006715532.1:n.*194G>C
XM_011535791.1:c.2133G>C	XP_011534093.1:p.Glu711Asp
XM_011535792.1:c.2133G>C	XP_011534094.1:p.Glu711Asp
XM_017010826.1:c.*194G>C	XP_016866315.1:n.*194G>C
NM_001010892.3:c.2133G>C MANE Select	NP_001010892.1:p.Glu711Asp
NM_001161664.2:c.*194G>C	NP_001155136.1:n.*194G>C