Canonical Allele Identifier: CA365391550

Gene: RSPH4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116616919C>T , CM000668.2:g.116616919C>T	GRCh38
NC_000006.11:g.116938082C>T , CM000668.1:g.116938082C>T	GRCh37
NC_000006.10:g.117044775C>T	NCBI36
NG_012934.1:g.5441C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001010892.3:c.296C>T MANE Select	NP_001010892.1:p.Pro99Leu
ENST00000229554.10:c.296C>T MANE Select	ENSP00000229554.5:p.Pro99Leu
NM_001010892.2:c.296C>T	NP_001010892.1:p.Pro99Leu
NM_001161664.1:c.296C>T	NP_001155136.1:p.Pro99Leu
NM_001161664.2:c.296C>T	NP_001155136.1:p.Pro99Leu
ENST00000229554.9:c.296C>T	ENSP00000229554.5:p.Pro99Leu
ENST00000368580.4:c.296C>T	ENSP00000357569.4:p.Pro99Leu
ENST00000368581.8:c.296C>T	ENSP00000357570.4:p.Pro99Leu
XM_006715469.2:c.296C>T	XP_006715532.1:p.Pro99Leu
XM_011535791.1:c.296C>T	XP_011534093.1:p.Pro99Leu
XM_011535792.1:c.296C>T	XP_011534094.1:p.Pro99Leu
XM_017010826.1:c.296C>T	XP_016866315.1:p.Pro99Leu
XR_942416.1:n.2947C>T