Canonical Allele Identifier: CA1589888241
Community Standard Title: NM_006846.4(SPINK5):c.891C= (p.Cys297=)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148097875C= , CM000667.2:g.148097875C= GRCh38
NC_000005.9:g.147477438C= , CM000667.1:g.147477438C= GRCh37
NC_000005.8:g.147457631C= NCBI36
NG_009633.1:g.38904C= , LRG_110:g.38904C=

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.891C= MANE Select NP_006837.2:p.Cys297=
ENST00000256084.8:c.891C= MANE Select ENSP00000256084.7:p.Cys297=
NM_001127698.1:c.891C= NP_001121170.1:p.Cys297=
NM_001127698.2:c.891C= NP_001121170.1:p.Cys297=
NM_001127699.1:c.891C= NP_001121171.1:p.Cys297=
NM_001127699.2:c.891C= NP_001121171.1:p.Cys297=
NM_006846.3:c.891C= , LRG_110t1:c.891C= NP_006837.2:p.Cys297=
ENST00000256084.7:c.891C= ENSP00000256084.7:p.Cys297=
ENST00000359874.7:c.891C= ENSP00000352936.3:p.Cys297=
ENST00000398454.5:c.891C= ENSP00000381472.1:p.Cys297=
ENST00000476608.1:n.407C=
ENST00000481286.5:n.337C=
ENST00000481286.6:n.500C=
ENST00000507988.5:n.1055C=
ENST00000508733.5:c.834C= ENSP00000421519.1:p.Cys278=
ENST00000698105.1:n.761C=
XM_011537550.1:c.834C= XP_011535852.1:p.Cys278=
XM_011537551.1:c.807C= XP_011535853.1:p.Cys269=
XM_011537551.2:c.807C= XP_011535853.1:p.Cys269=