Canonical Allele Identifier: CA3496223
Gene: SPINK5 HGNC NCBI

Linked Data

ClinVar Variation Id: 459574
ClinVar RCV Id: RCV000539268 RCV003596033
dbSNP Id: rs766978225
ExAC: 5:147510875 T / A
gnomAD v2: 5-147510875-T-A
gnomAD v3: 5-148131312-T-A
gnomAD v4: 5-148131312-T-A
MyVariant Identifiers: chr5:g.147510875T>A (hg19) chr5:g.148131312T>A (hg38)
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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
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