Canonical Allele Identifier: CA1657314491

Gene: RSPH4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632380T= , CM000668.2:g.116632380T=	GRCh38
NC_000006.11:g.116953543T= , CM000668.1:g.116953543T=	GRCh37
NC_000006.10:g.117060236T=	NCBI36
NG_012934.1:g.20902T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2090T= MANE Select	ENSP00000229554.5:p.Leu697=
ENST00000229554.9:c.2090T=	ENSP00000229554.5:p.Leu697=
ENST00000368580.4:c.1349T=	ENSP00000357569.4:p.Leu450=
ENST00000368581.8:c.*151T=	ENSP00000357570.4:n.*151T=
NM_001010892.2:c.2090T=	NP_001010892.1:p.Leu697=
NM_001161664.1:c.*151T=	NP_001155136.1:n.*151T=
XM_006715469.2:c.*151T=	XP_006715532.1:n.*151T=
XM_011535791.1:c.2090T=	XP_011534093.1:p.Leu697=
XM_011535792.1:c.2090T=	XP_011534094.1:p.Leu697=
XM_017010826.1:c.*151T=	XP_016866315.1:n.*151T=
NM_001010892.3:c.2090T= MANE Select	NP_001010892.1:p.Leu697=
NM_001161664.2:c.*151T=	NP_001155136.1:n.*151T=