Canonical Allele Identifier: CA3495609
Gene: SPINK5 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148104940G>A , CM000667.2:g.148104940G>A GRCh38
NC_000005.9:g.147484503G>A , CM000667.1:g.147484503G>A GRCh37
NC_000005.8:g.147464696G>A NCBI36
NG_009633.1:g.45969G>A , LRG_110:g.45969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1040-12G>A
ENST00000256084.8:c.1431-12G>A MANE Select ENSP00000256084.7:n.1431-12G>A
ENST00000256084.7:c.1431-12G>A ENSP00000256084.7:n.1431-12G>A
ENST00000359874.7:c.1431-12G>A ENSP00000352936.3:n.1431-12G>A
ENST00000398454.5:c.1431-12G>A ENSP00000381472.1:n.1431-12G>A
ENST00000507988.5:n.1595-12G>A
ENST00000508733.5:c.1374-12G>A ENSP00000421519.1:n.1374-12G>A
NM_001127698.1:c.1431-12G>A NP_001121170.1:n.1431-12G>A
NM_001127699.1:c.1431-12G>A NP_001121171.1:n.1431-12G>A
NM_006846.3:c.1431-12G>A , LRG_110t1:c.1431-12G>A NP_006837.2:n.1431-12G>A
XM_011537550.1:c.1374-12G>A XP_011535852.1:n.1374-12G>A
XM_011537551.1:c.1347-12G>A XP_011535853.1:n.1347-12G>A
XM_011537551.2:c.1347-12G>A XP_011535853.1:n.1347-12G>A
NM_001127698.2:c.1431-12G>A NP_001121170.1:n.1431-12G>A
NM_001127699.2:c.1431-12G>A NP_001121171.1:n.1431-12G>A
NM_006846.4:c.1431-12G>A MANE Select NP_006837.2:n.1431-12G>A