Canonical Allele Identifier: CA3496231
Community Standard Title: NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131369C>T , CM000667.2:g.148131369C>T GRCh38
NC_000005.9:g.147510932C>T , CM000667.1:g.147510932C>T GRCh37
NC_000005.8:g.147491125C>T NCBI36
NG_009633.1:g.72398C>T , LRG_110:g.72398C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.3075C>T MANE Select NP_006837.2:p.Cys1025=
ENST00000256084.8:c.3075C>T MANE Select ENSP00000256084.7:p.Cys1025=
NM_001127698.1:c.3165C>T NP_001121170.1:p.Cys1055=
NM_001127698.2:c.3165C>T NP_001121170.1:p.Cys1055=
NM_006846.3:c.3075C>T , LRG_110t1:c.3075C>T NP_006837.2:p.Cys1025=
ENST00000256084.7:c.3075C>T ENSP00000256084.7:p.Cys1025=
ENST00000359874.7:c.3165C>T ENSP00000352936.3:p.Cys1055=
XM_011537550.1:c.3108C>T XP_011535852.1:p.Cys1036=
XM_011537551.1:c.3081C>T XP_011535853.1:p.Cys1027=
XM_011537551.2:c.3081C>T XP_011535853.1:p.Cys1027=