Canonical Allele Identifier: CA293696
Gene: SPINK5 HGNC NCBI
COSMIC:
COSM5425399 (not active)
COSM5425400 (not active)
MyVariant.info:
GRCh38 chr5:g.148100517G>A
GRCh37 chr5:g.147480080G>A
Revel Score:
ENST00000398454 0.090
ENST00000359874 0.090
ENST00000508733 0.090
ENST00000256084 (MANE Select) 0.090
gnomAD v2:
5:147480080 G / A
gnomAD v3:
5:148100517 G / A
gnomAD v4:
chr5-148100517-G-A
Joint Max Group AF 0.4960884 (AFR)
Genomes Max Group AF 0.49134731 (AFR)
Exomes Max Group AF 0.49805484 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148100517G>A , CM000667.2:g.148100517G>A GRCh38
NC_000005.9:g.147480080G>A , CM000667.1:g.147480080G>A GRCh37
NC_000005.8:g.147460273G>A NCBI36
NG_009633.1:g.41546G>A , LRG_110:g.41546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.765G>A
ENST00000256084.8:c.1156G>A MANE Select ENSP00000256084.7:p.Asp386Asn
ENST00000256084.7:c.1156G>A ENSP00000256084.7:p.Asp386Asn
ENST00000359874.7:c.1156G>A ENSP00000352936.3:p.Asp386Asn
ENST00000398454.5:c.1156G>A ENSP00000381472.1:p.Asp386Asn
ENST00000476608.1:n.672G>A
ENST00000507988.5:n.1320G>A
ENST00000508733.5:c.1099G>A ENSP00000421519.1:p.Asp367Asn
NM_001127698.1:c.1156G>A NP_001121170.1:p.Asp386Asn
NM_001127699.1:c.1156G>A NP_001121171.1:p.Asp386Asn
NM_006846.3:c.1156G>A , LRG_110t1:c.1156G>A NP_006837.2:p.Asp386Asn
XM_011537550.1:c.1099G>A XP_011535852.1:p.Asp367Asn
XM_011537551.1:c.1072G>A XP_011535853.1:p.Asp358Asn
XM_011537551.2:c.1072G>A XP_011535853.1:p.Asp358Asn
NM_001127698.2:c.1156G>A NP_001121170.1:p.Asp386Asn
NM_001127699.2:c.1156G>A NP_001121171.1:p.Asp386Asn
NM_006846.4:c.1156G>A MANE Select NP_006837.2:p.Asp386Asn
Search 100 bp 5'
Search 100 bp 3'