Canonical Allele Identifier: CA2338614968

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804314C= , CM000681.2:g.45804314C=	GRCh38
NC_000019.9:g.46307572C= , CM000681.1:g.46307572C=	GRCh37
NC_000019.8:g.50999412C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1591G= MANE Select	ENSP00000221538.2:p.Val531=
ENST00000221538.7:c.1591G=	ENSP00000221538.2:p.Val531=
ENST00000597055.1:c.1591G=	ENSP00000472630.1:p.Val531=
ENST00000600188.5:c.799G=	ENSP00000471559.1:p.Val267=
NM_030785.3:c.1591G=	NP_110412.1:p.Val531=
XM_011527351.1:c.1591G=	XP_011525653.1:p.Val531=
XM_011527351.2:c.1591G=	XP_011525653.1:p.Val531=
NM_030785.4:c.1591G= MANE Select	NP_110412.1:p.Val531=