Canonical Allele Identifier: CA507965474

Gene: RSPH6A

Linked Data

• MyVariant Identifiers: chr19:g.46307672C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804414C>G , CM000681.2:g.45804414C>G	GRCh38
NC_000019.9:g.46307672C>G , CM000681.1:g.46307672C>G	GRCh37
NC_000019.8:g.50999512C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1491G>C MANE Select	ENSP00000221538.2:p.Leu497=
ENST00000221538.7:c.1491G>C	ENSP00000221538.2:p.Leu497=
ENST00000597055.1:c.1491G>C	ENSP00000472630.1:p.Leu497=
ENST00000600188.5:c.699G>C	ENSP00000471559.1:p.Leu233=
NM_030785.3:c.1491G>C	NP_110412.1:p.Leu497=
XM_011527351.1:c.1491G>C	XP_011525653.1:p.Leu497=
XM_011527351.2:c.1491G>C	XP_011525653.1:p.Leu497=
NM_030785.4:c.1491G>C MANE Select	NP_110412.1:p.Leu497=