Canonical Allele Identifier: CA16042515
Gene: SPINK5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373039
ClinVar RCV Id: RCV000413636
dbSNP Id: rs1057518161
MyVariant Identifiers: chr5:g.147475470T>C (hg19) chr5:g.148095907T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148095907T>C , CM000667.2:g.148095907T>C GRCh38
NC_000005.9:g.147475470T>C , CM000667.1:g.147475470T>C GRCh37
NC_000005.8:g.147455663T>C NCBI36
NG_009633.1:g.36936T>C , LRG_110:g.36936T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000481286.6:n.491+2T>C
ENST00000698105.1:n.752+2T>C
ENST00000256084.8:c.882+2T>C MANE Select ENSP00000256084.7:n.882+2T>C
ENST00000256084.7:c.882+2T>C ENSP00000256084.7:n.882+2T>C
ENST00000359874.7:c.882+2T>C ENSP00000352936.3:n.882+2T>C
ENST00000398454.5:c.882+2T>C ENSP00000381472.1:n.882+2T>C
ENST00000476608.1:n.398+2T>C
ENST00000481286.5:n.328+2T>C
ENST00000507988.5:n.1046+2T>C
ENST00000508733.5:c.825+2T>C ENSP00000421519.1:n.825+2T>C
NM_001127698.1:c.882+2T>C NP_001121170.1:n.882+2T>C
NM_001127699.1:c.882+2T>C NP_001121171.1:n.882+2T>C
NM_006846.3:c.882+2T>C , LRG_110t1:c.882+2T>C NP_006837.2:n.882+2T>C
XM_011537550.1:c.825+2T>C XP_011535852.1:n.825+2T>C
XM_011537551.1:c.798+2T>C XP_011535853.1:n.798+2T>C
XM_011537551.2:c.798+2T>C XP_011535853.1:n.798+2T>C
NM_001127698.2:c.882+2T>C NP_001121170.1:n.882+2T>C
NM_001127699.2:c.882+2T>C NP_001121171.1:n.882+2T>C
NM_006846.4:c.882+2T>C MANE Select NP_006837.2:n.882+2T>C
Search 100 bp 5'
Search 100 bp 3'