Canonical Allele Identifier: CA361635900
Community Standard Title: NM_006846.4(SPINK5):c.1089T>A (p.Tyr363Ter)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148099312T>A , CM000667.2:g.148099312T>A GRCh38
NC_000005.9:g.147478875T>A , CM000667.1:g.147478875T>A GRCh37
NC_000005.8:g.147459068T>A NCBI36
NG_009633.1:g.40341T>A , LRG_110:g.40341T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.1089T>A MANE Select NP_006837.2:p.Tyr363Ter
ENST00000256084.8:c.1089T>A MANE Select ENSP00000256084.7:p.Tyr363Ter
NM_001127698.1:c.1089T>A NP_001121170.1:p.Tyr363Ter
NM_001127698.2:c.1089T>A NP_001121170.1:p.Tyr363Ter
NM_001127699.1:c.1089T>A NP_001121171.1:p.Tyr363Ter
NM_001127699.2:c.1089T>A NP_001121171.1:p.Tyr363Ter
NM_006846.3:c.1089T>A , LRG_110t1:c.1089T>A NP_006837.2:p.Tyr363Ter
ENST00000256084.7:c.1089T>A ENSP00000256084.7:p.Tyr363Ter
ENST00000359874.7:c.1089T>A ENSP00000352936.3:p.Tyr363Ter
ENST00000398454.5:c.1089T>A ENSP00000381472.1:p.Tyr363Ter
ENST00000476608.1:n.605T>A
ENST00000481286.6:n.698T>A
ENST00000507988.5:n.1253T>A
ENST00000508733.5:c.1032T>A ENSP00000421519.1:p.Tyr344Ter
XM_011537550.1:c.1032T>A XP_011535852.1:p.Tyr344Ter
XM_011537551.1:c.1005T>A XP_011535853.1:p.Tyr335Ter
XM_011537551.2:c.1005T>A XP_011535853.1:p.Tyr335Ter