Canonical Allele Identifier: CA3495250
Community Standard Title: NM_006846.4(SPINK5):c.489T>A (p.Ala163=)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148089508T>A , CM000667.2:g.148089508T>A GRCh38
NC_000005.9:g.147469071T>A , CM000667.1:g.147469071T>A GRCh37
NC_000005.8:g.147449264T>A NCBI36
NG_009633.1:g.30537T>A , LRG_110:g.30537T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.489T>A MANE Select NP_006837.2:p.Ala163=
ENST00000256084.8:c.489T>A MANE Select ENSP00000256084.7:p.Ala163=
NM_001127698.1:c.489T>A NP_001121170.1:p.Ala163=
NM_001127698.2:c.489T>A NP_001121170.1:p.Ala163=
NM_001127699.1:c.489T>A NP_001121171.1:p.Ala163=
NM_001127699.2:c.489T>A NP_001121171.1:p.Ala163=
NM_006846.3:c.489T>A , LRG_110t1:c.489T>A NP_006837.2:p.Ala163=
ENST00000256084.7:c.489T>A ENSP00000256084.7:p.Ala163=
ENST00000359874.7:c.489T>A ENSP00000352936.3:p.Ala163=
ENST00000398454.5:c.489T>A ENSP00000381472.1:p.Ala163=
ENST00000476697.7:c.*14T>A ENSP00000427943.1:n.*14T>A
ENST00000507988.5:n.653T>A
ENST00000508733.5:c.432T>A ENSP00000421519.1:p.Ala144=
ENST00000698105.1:n.359T>A
XM_011537550.1:c.432T>A XP_011535852.1:p.Ala144=
XM_011537551.1:c.405T>A XP_011535853.1:p.Ala135=
XM_011537551.2:c.405T>A XP_011535853.1:p.Ala135=