Canonical Allele Identifier: CA410366142

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42486421G>C , CM000683.2:g.42486421G>C	GRCh38
NC_000021.8:g.43906531G>C , CM000683.1:g.43906531G>C	GRCh37
NC_000021.7:g.42779600G>C	NCBI36
NG_034257.1:g.14934C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.315C>G MANE Select	NP_543136.1:p.Tyr105Ter
ENST00000291536.8:c.315C>G MANE Select	ENSP00000291536.3:p.Tyr105Ter
NM_001286506.1:c.201C>G	NP_001273435.1:p.Tyr67Ter
NM_001286506.2:c.201C>G	NP_001273435.1:p.Tyr67Ter
NM_080860.3:c.315C>G	NP_543136.1:p.Tyr105Ter
ENST00000291536.7:c.315C>G	ENSP00000291536.3:p.Tyr105Ter
ENST00000398352.3:c.201C>G	ENSP00000381395.3:p.Tyr67Ter
ENST00000493019.1:n.375C>G
XM_005261208.1:c.108C>G	XP_005261265.1:p.Tyr36Ter
XM_005261208.2:c.108C>G	XP_005261265.1:p.Tyr36Ter
XM_011529786.1:c.315C>G	XP_011528088.1:p.Tyr105Ter