Canonical Allele Identifier: CA3495925
Gene: SPINK5 HGNC NCBI

Linked Data

ClinVar Variation Id: 449103
dbSNP Id: rs181639116

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148118988A>G , CM000667.2:g.148118988A>G GRCh38
NC_000005.9:g.147498551A>G , CM000667.1:g.147498551A>G GRCh37
NC_000005.8:g.147478744A>G NCBI36
NG_009633.1:g.60017A>G , LRG_110:g.60017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2243A>G MANE Select ENSP00000256084.7:p.Glu748Gly
ENST00000256084.7:c.2243A>G ENSP00000256084.7:p.Glu748Gly
ENST00000359874.7:c.2243A>G ENSP00000352936.3:p.Glu748Gly
ENST00000398454.5:c.2243A>G ENSP00000381472.1:p.Glu748Gly
ENST00000507988.5:n.2407A>G
ENST00000508733.5:c.2186A>G ENSP00000421519.1:p.Glu729Gly
NM_001127698.1:c.2243A>G NP_001121170.1:p.Glu748Gly
NM_001127699.1:c.2243A>G NP_001121171.1:p.Glu748Gly
NM_006846.3:c.2243A>G , LRG_110t1:c.2243A>G NP_006837.2:p.Glu748Gly
XM_011537550.1:c.2186A>G XP_011535852.1:p.Glu729Gly
XM_011537551.1:c.2159A>G XP_011535853.1:p.Glu720Gly
XM_011537551.2:c.2159A>G XP_011535853.1:p.Glu720Gly
NM_001127698.2:c.2243A>G NP_001121170.1:p.Glu748Gly
NM_001127699.2:c.2243A>G NP_001121171.1:p.Glu748Gly
NM_006846.4:c.2243A>G MANE Select NP_006837.2:p.Glu748Gly