Canonical Allele Identifier: CA365403191

Gene: RSPH4A

Linked Data

• MyVariant Identifiers: chr6:g.116948857G>C (hg19) ; chr6:g.116627694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116627694G>C , CM000668.2:g.116627694G>C	GRCh38
NC_000006.11:g.116948857G>C , CM000668.1:g.116948857G>C	GRCh37
NC_000006.10:g.117055550G>C	NCBI36
NG_012934.1:g.16216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.987G>C MANE Select	ENSP00000229554.5:p.Leu329Phe
ENST00000229554.9:c.987G>C	ENSP00000229554.5:p.Leu329Phe
ENST00000368580.4:c.922-1873G>C	ENSP00000357569.4:n.922-1873G>C
ENST00000368581.8:c.987G>C	ENSP00000357570.4:p.Leu329Phe
NM_001010892.2:c.987G>C	NP_001010892.1:p.Leu329Phe
NM_001161664.1:c.987G>C	NP_001155136.1:p.Leu329Phe
XM_006715469.2:c.987G>C	XP_006715532.1:p.Leu329Phe
XM_011535791.1:c.987G>C	XP_011534093.1:p.Leu329Phe
XM_011535792.1:c.987G>C	XP_011534094.1:p.Leu329Phe
XR_942416.1:n.3638G>C
XM_017010826.1:c.987G>C	XP_016866315.1:p.Leu329Phe
NM_001010892.3:c.987G>C MANE Select	NP_001010892.1:p.Leu329Phe
NM_001161664.2:c.987G>C	NP_001155136.1:p.Leu329Phe