Canonical Allele Identifier: CA3496223
Gene: SPINK5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.148131312T>A
GRCh37 chr5:g.147510875T>A
gnomAD v2:
5:147510875 T / A
gnomAD v3:
5:148131312 T / A
gnomAD v4:
chr5-148131312-T-A
Joint Max Group AF 0.00001221 (NFE)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00001214 (NFE)
ClinVar Allele:
455539
ClinVar RCV:
RCV000539268
RCV003596033
ClinVar Variation:
459574
dbSNP:
766978225
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131312T>A , CM000667.2:g.148131312T>A GRCh38
NC_000005.9:g.147510875T>A , CM000667.1:g.147510875T>A GRCh37
NC_000005.8:g.147491068T>A NCBI36
NG_009633.1:g.72341T>A , LRG_110:g.72341T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.3018T>A MANE Select ENSP00000256084.7:p.Cys1006Ter
ENST00000256084.7:c.3018T>A ENSP00000256084.7:p.Cys1006Ter
ENST00000359874.7:c.3108T>A ENSP00000352936.3:p.Cys1036Ter
NM_001127698.1:c.3108T>A NP_001121170.1:p.Cys1036Ter
NM_006846.3:c.3018T>A , LRG_110t1:c.3018T>A NP_006837.2:p.Cys1006Ter
XM_011537550.1:c.3051T>A XP_011535852.1:p.Cys1017Ter
XM_011537551.1:c.3024T>A XP_011535853.1:p.Cys1008Ter
XM_011537551.2:c.3024T>A XP_011535853.1:p.Cys1008Ter
NM_001127698.2:c.3108T>A NP_001121170.1:p.Cys1036Ter
NM_006846.4:c.3018T>A MANE Select NP_006837.2:p.Cys1006Ter
Search 100 bp 5'
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