Canonical Allele Identifier: CA10044071

Gene: RSPH1

Linked Data

• dbSNP Id: rs138320978
• ExAC: 21:43913159 C / T
• gnomAD v2: 21-43913159-C-T
• gnomAD v3: 21-42493049-C-T
• gnomAD v4: 21-42493049-C-T
• MyVariant Identifiers: chr21:g.43913159C>T (hg19) ; chr21:g.42493049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42493049C>T , CM000683.2:g.42493049C>T	GRCh38
NC_000021.8:g.43913159C>T , CM000683.1:g.43913159C>T	GRCh37
NC_000021.7:g.42786228C>T	NCBI36
NG_034257.1:g.8306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000291536.8:c.85G>A MANE Select	ENSP00000291536.3:p.Glu29Lys
ENST00000291536.7:c.85G>A	ENSP00000291536.3:p.Glu29Lys
ENST00000398352.3:c.55-186G>A	ENSP00000381395.3:n.55-186G>A
ENST00000493019.1:n.145G>A
NM_001286506.1:c.55-186G>A	NP_001273435.1:n.55-186G>A
NM_080860.3:c.85G>A	NP_543136.1:p.Glu29Lys
XM_005261208.1:c.67+3071G>A	XP_005261265.1:n.67+3071G>A
XM_011529786.1:c.85G>A	XP_011528088.1:p.Glu29Lys
XM_005261208.2:c.67+3071G>A	XP_005261265.1:n.67+3071G>A
NM_080860.4:c.85G>A MANE Select	NP_543136.1:p.Glu29Lys
NM_001286506.2:c.55-186G>A	NP_001273435.1:n.55-186G>A