Canonical Allele Identifier: CA1589888289
Community Standard Title: NM_006846.4(SPINK5):c.1004C= (p.Ala335=)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148097988C= , CM000667.2:g.148097988C= GRCh38
NC_000005.9:g.147477551C= , CM000667.1:g.147477551C= GRCh37
NC_000005.8:g.147457744C= NCBI36
NG_009633.1:g.39017C= , LRG_110:g.39017C=

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.1004C= MANE Select NP_006837.2:p.Ala335=
ENST00000256084.8:c.1004C= MANE Select ENSP00000256084.7:p.Ala335=
NM_001127698.1:c.1004C= NP_001121170.1:p.Ala335=
NM_001127698.2:c.1004C= NP_001121170.1:p.Ala335=
NM_001127699.1:c.1004C= NP_001121171.1:p.Ala335=
NM_001127699.2:c.1004C= NP_001121171.1:p.Ala335=
NM_006846.3:c.1004C= , LRG_110t1:c.1004C= NP_006837.2:p.Ala335=
ENST00000256084.7:c.1004C= ENSP00000256084.7:p.Ala335=
ENST00000359874.7:c.1004C= ENSP00000352936.3:p.Ala335=
ENST00000398454.5:c.1004C= ENSP00000381472.1:p.Ala335=
ENST00000476608.1:n.520C=
ENST00000481286.5:n.450C=
ENST00000481286.6:n.613C=
ENST00000507988.5:n.1168C=
ENST00000508733.5:c.947C= ENSP00000421519.1:p.Ala316=
ENST00000698105.1:n.874C=
XM_011537550.1:c.947C= XP_011535852.1:p.Ala316=
XM_011537551.1:c.920C= XP_011535853.1:p.Ala307=
XM_011537551.2:c.920C= XP_011535853.1:p.Ala307=