Canonical Allele Identifier: CA10043746

Gene: RSPH1

Linked Data

• ClinVar Variation Id: 454952
• ClinVar RCV Id: RCV000550740 ; RCV002525273
• dbSNP Id: rs139390401
• ExAC: 21:43896100 A / G
• gnomAD v2: 21-43896100-A-G
• gnomAD v3: 21-42475990-A-G
• gnomAD v4: 21-42475990-A-G
• MyVariant Identifiers: chr21:g.43896100A>G (hg19) ; chr21:g.42475990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42475990A>G , CM000683.2:g.42475990A>G	GRCh38
NC_000021.8:g.43896100A>G , CM000683.1:g.43896100A>G	GRCh37
NC_000021.7:g.42769169A>G	NCBI36
NG_034257.1:g.25365T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.785T>C MANE Select	ENSP00000291536.3:p.Met262Thr
ENST00000291536.7:c.785T>C	ENSP00000291536.3:p.Met262Thr
ENST00000398352.3:c.671T>C	ENSP00000381395.3:p.Met224Thr
ENST00000493019.1:n.2403T>C
NM_001286506.1:c.671T>C	NP_001273435.1:p.Met224Thr
NM_080860.3:c.785T>C	NP_543136.1:p.Met262Thr
XM_005261208.1:c.578T>C	XP_005261265.1:p.Met193Thr
XM_011529786.1:c.713T>C	XP_011528088.1:p.Met238Thr
XM_005261208.2:c.578T>C	XP_005261265.1:p.Met193Thr
NM_080860.4:c.785T>C MANE Select	NP_543136.1:p.Met262Thr
NM_001286506.2:c.671T>C	NP_001273435.1:p.Met224Thr