Canonical Allele Identifier: CA1096426628

Gene: RSPH3

Linked Data

• dbSNP Id: rs1256671919
• gnomAD v3: 6-158982437-C-G
• gnomAD v4: 6-158982437-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982437C>G , CM000668.2:g.158982437C>G	GRCh38
NC_000006.11:g.159403469C>G , CM000668.1:g.159403469C>G	GRCh37
NC_000006.10:g.159323457C>G	NCBI36
NG_051819.1:g.22751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.696+48G>C MANE Select	ENSP00000356036.1:n.696+48G>C
ENST00000252655.1:c.1122+48G>C	ENSP00000252655.1:n.1122+48G>C
ENST00000367069.6:c.696+48G>C	ENSP00000356036.1:n.696+48G>C
ENST00000449822.5:c.408+48G>C	ENSP00000393195.1:n.408+48G>C
NM_031924.4:c.1122+48G>C	NP_114130.3:n.1122+48G>C
XM_005267153.3:c.834+48G>C	XP_005267210.1:n.834+48G>C
XR_245553.2:n.1578+48G>C
NM_001346418.1:c.834+48G>C	NP_001333347.1:n.834+48G>C
NM_031924.5:c.1122+48G>C	NP_114130.3:n.1122+48G>C
NR_144434.1:n.1333+48G>C
XM_017011347.2:c.306+48G>C	XP_016866836.1:n.306+48G>C
XM_024446566.1:c.306+48G>C	XP_024302334.1:n.306+48G>C
XR_001743668.2:n.1572+48G>C
XR_001743669.2:n.1572+48G>C
XR_001743670.2:n.1284+48G>C
XR_001743671.2:n.778+48G>C
NM_031924.6:c.1122+48G>C	NP_114130.3:n.1122+48G>C
NM_031924.8:c.696+48G>C MANE Select	NP_114130.4:n.696+48G>C