Canonical Allele Identifier: CA3496215
Community Standard Title: NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131283C>T , CM000667.2:g.148131283C>T GRCh38
NC_000005.9:g.147510846C>T , CM000667.1:g.147510846C>T GRCh37
NC_000005.8:g.147491039C>T NCBI36
NG_009633.1:g.72312C>T , LRG_110:g.72312C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.2989C>T MANE Select NP_006837.2:p.Arg997Ter
ENST00000256084.8:c.2989C>T MANE Select ENSP00000256084.7:p.Arg997Ter
NM_001127698.1:c.3079C>T NP_001121170.1:p.Arg1027Ter
NM_001127698.2:c.3079C>T NP_001121170.1:p.Arg1027Ter
NM_006846.3:c.2989C>T , LRG_110t1:c.2989C>T NP_006837.2:p.Arg997Ter
ENST00000256084.7:c.2989C>T ENSP00000256084.7:p.Arg997Ter
ENST00000359874.7:c.3079C>T ENSP00000352936.3:p.Arg1027Ter
XM_011537550.1:c.3022C>T XP_011535852.1:p.Arg1008Ter
XM_011537551.1:c.2995C>T XP_011535853.1:p.Arg999Ter
XM_011537551.2:c.2995C>T XP_011535853.1:p.Arg999Ter