Canonical Allele Identifier: CA071956
Gene: ARR3 HGNC NCBI
RAB41 HGNC NCBI

Linked Data

ClinVar Variation Id: 221943
ClinVar RCV Id: RCV000207379 RCV001573333
dbSNP Id: rs140505250
ExAC: X:69500654 C / T
gnomAD v2: X-69500654-C-T
gnomAD v3: X-70280804-C-T
gnomAD v4: X-70280804-C-T
MyVariant Identifiers: chrX:g.69500654C>T (hg19) chrX:g.70280804C>T (hg38)
PubMed: PMID:26893459
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70280804C>T , CM000685.2:g.70280804C>T GRCh38
NC_000023.10:g.69500654C>T , CM000685.1:g.69500654C>T GRCh37
NC_000023.9:g.69417379C>T NCBI36
NG_021267.1:g.3633C>T
NG_050734.1:g.22302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307959.9:c.1052C>T (ARR3) MANE Select ENSP00000311538.8:p.Pro351Leu
ENST00000307959.8:c.1052C>T (ARR3) ENSP00000311538.8:p.Pro351Leu
ENST00000374495.7:c.1052C>T (ARR3) ENSP00000363619.3:p.Pro351Leu
ENST00000620997.4:c.1052C>T (ARR3) ENSP00000480426.1:p.Pro351Leu
NM_004312.2:c.1052C>T (ARR3) NP_004303.2:p.Pro351Leu
XR_938427.1:n.449G>A
XR_938428.1:n.449G>A
XR_938429.1:n.449G>A
XM_011530948.3:c.-1414C>T (RAB41) XP_011529250.1:n.-1414C>T
XM_017029518.1:c.1097C>T (ARR3) XP_016885007.1:p.Pro366Leu
NM_004312.3:c.1052C>T (ARR3) MANE Select NP_004303.2:p.Pro351Leu
Search 100 bp 5'
Search 100 bp 3'