Canonical Allele Identifier: CA16042210
Gene: SPARC HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151667555C>T
GRCh37 chr5:g.151047116C>T
Revel Score:
ENST00000231061 (MANE Select) 0.488
ENST00000538026 0.488
ENST00000521569 0.488
gnomAD v2:
5:151047116 C / T
gnomAD v3:
5:151667555 C / T
gnomAD v4:
chr5-151667555-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000412625
ClinVar Variation:
372140
dbSNP:
1057517662
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151667555C>T , CM000667.2:g.151667555C>T GRCh38
NC_000005.9:g.151047116C>T , CM000667.1:g.151047116C>T GRCh37
NC_000005.8:g.151027309C>T NCBI36
NG_042174.1:g.24500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231061.9:c.497G>A MANE Select ENSP00000231061.4:p.Arg166His
ENST00000231061.8:c.497G>A ENSP00000231061.4:p.Arg166His
ENST00000520687.1:n.100G>A
ENST00000521569.1:c.224G>A ENSP00000428119.1:p.Arg75His
ENST00000524277.1:n.424G>A
ENST00000537849.1:n.30G>A
ENST00000538026.5:c.224G>A ENSP00000440127.1:p.Arg75His
NM_001309443.1:c.494G>A NP_001296372.1:p.Arg165His
NM_001309444.1:c.497G>A NP_001296373.1:p.Arg166His
NM_003118.3:c.497G>A NP_003109.1:p.Arg166His
NM_003118.4:c.497G>A MANE Select NP_003109.1:p.Arg166His
NM_001309443.2:c.494G>A NP_001296372.1:p.Arg165His
NM_001309444.2:c.497G>A NP_001296373.1:p.Arg166His
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