Canonical Allele Identifier: CA365403470

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1187504959
• gnomAD v2: 6-116948906-G-C
• gnomAD v4: 6-116627743-G-C
• MyVariant Identifiers: chr6:g.116948906G>C (hg19) ; chr6:g.116627743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116627743G>C , CM000668.2:g.116627743G>C	GRCh38
NC_000006.11:g.116948906G>C , CM000668.1:g.116948906G>C	GRCh37
NC_000006.10:g.117055599G>C	NCBI36
NG_012934.1:g.16265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.1036G>C MANE Select	ENSP00000229554.5:p.Asp346His
ENST00000229554.9:c.1036G>C	ENSP00000229554.5:p.Asp346His
ENST00000368580.4:c.922-1824G>C	ENSP00000357569.4:n.922-1824G>C
ENST00000368581.8:c.1036G>C	ENSP00000357570.4:p.Asp346His
NM_001010892.2:c.1036G>C	NP_001010892.1:p.Asp346His
NM_001161664.1:c.1036G>C	NP_001155136.1:p.Asp346His
XM_006715469.2:c.1036G>C	XP_006715532.1:p.Asp346His
XM_011535791.1:c.1036G>C	XP_011534093.1:p.Asp346His
XM_011535792.1:c.1036G>C	XP_011534094.1:p.Asp346His
XR_942416.1:n.3687G>C
XM_017010826.1:c.1036G>C	XP_016866315.1:p.Asp346His
NM_001010892.3:c.1036G>C MANE Select	NP_001010892.1:p.Asp346His
NM_001161664.2:c.1036G>C	NP_001155136.1:p.Asp346His