Canonical Allele Identifier: CA151040771

Gene: RSPH3

Linked Data

• dbSNP Id: rs112517692
• gnomAD v4: 6-158982406-T-C
• MyVariant Identifiers: chr6:g.159403438T>C (hg19) ; chr6:g.158982406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982406T>C , CM000668.2:g.158982406T>C	GRCh38
NC_000006.11:g.159403438T>C , CM000668.1:g.159403438T>C	GRCh37
NC_000006.10:g.159323426T>C	NCBI36
NG_051819.1:g.22782A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367069.7:c.696+79A>G MANE Select	ENSP00000356036.1:n.696+79A>G
ENST00000252655.1:c.1122+79A>G	ENSP00000252655.1:n.1122+79A>G
ENST00000367069.6:c.696+79A>G	ENSP00000356036.1:n.696+79A>G
ENST00000449822.5:c.408+79A>G	ENSP00000393195.1:n.408+79A>G
NM_031924.4:c.1122+79A>G	NP_114130.3:n.1122+79A>G
XM_005267153.3:c.834+79A>G	XP_005267210.1:n.834+79A>G
XR_245553.2:n.1578+79A>G
NM_001346418.1:c.834+79A>G	NP_001333347.1:n.834+79A>G
NM_031924.5:c.1122+79A>G	NP_114130.3:n.1122+79A>G
NR_144434.1:n.1333+79A>G
XM_017011347.2:c.306+79A>G	XP_016866836.1:n.306+79A>G
XM_024446566.1:c.306+79A>G	XP_024302334.1:n.306+79A>G
XR_001743668.2:n.1572+79A>G
XR_001743669.2:n.1572+79A>G
XR_001743670.2:n.1284+79A>G
XR_001743671.2:n.778+79A>G
NM_031924.6:c.1122+79A>G	NP_114130.3:n.1122+79A>G
NM_031924.8:c.696+79A>G MANE Select	NP_114130.4:n.696+79A>G