Canonical Allele Identifier: CA5037377
Gene: SPATA31F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498818
ClinVar RCV Id: RCV000598269
dbSNP Id: rs543661639
ExAC: 9:34725818 C / A
gnomAD v2: 9-34725818-C-A
gnomAD v3: 9-34725821-C-A
gnomAD v4: 9-34725821-C-A
MyVariant Identifiers: chr9:g.34725818C>A (hg19) chr9:g.34725821C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34725821C>A , CM000671.2:g.34725821C>A GRCh38
NC_000009.11:g.34725818C>A , CM000671.1:g.34725818C>A GRCh37
NC_000009.10:g.34715818C>A NCBI36
NG_052658.1:g.8718G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378788.4:c.1419G>T MANE Select ENSP00000417711.1:p.Glu473Asp
ENST00000378788.3:c.1419G>T ENSP00000417711.1:p.Glu473Asp
NM_001141917.1:c.1419G>T NP_001135389.1:p.Glu473Asp
NM_001141917.2:c.1419G>T MANE Select NP_001135389.1:p.Glu473Asp
Search 100 bp 5'
Search 100 bp 3'