Canonical Allele Identifier: CA361652085
Gene: SPINK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131310T>A , CM000667.2:g.148131310T>A GRCh38
NC_000005.9:g.147510873T>A , CM000667.1:g.147510873T>A GRCh37
NC_000005.8:g.147491066T>A NCBI36
NG_009633.1:g.72339T>A , LRG_110:g.72339T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.3016T>A MANE Select ENSP00000256084.7:p.Cys1006Ser
ENST00000256084.7:c.3016T>A ENSP00000256084.7:p.Cys1006Ser
ENST00000359874.7:c.3106T>A ENSP00000352936.3:p.Cys1036Ser
NM_001127698.1:c.3106T>A NP_001121170.1:p.Cys1036Ser
NM_006846.3:c.3016T>A , LRG_110t1:c.3016T>A NP_006837.2:p.Cys1006Ser
XM_011537550.1:c.3049T>A XP_011535852.1:p.Cys1017Ser
XM_011537551.1:c.3022T>A XP_011535853.1:p.Cys1008Ser
XM_011537551.2:c.3022T>A XP_011535853.1:p.Cys1008Ser
NM_001127698.2:c.3106T>A NP_001121170.1:p.Cys1036Ser
NM_006846.4:c.3016T>A MANE Select NP_006837.2:p.Cys1006Ser