Canonical Allele Identifier: CA361652113
Gene: SPINK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131319G>A , CM000667.2:g.148131319G>A GRCh38
NC_000005.9:g.147510882G>A , CM000667.1:g.147510882G>A GRCh37
NC_000005.8:g.147491075G>A NCBI36
NG_009633.1:g.72348G>A , LRG_110:g.72348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.3025G>A MANE Select ENSP00000256084.7:p.Asp1009Asn
ENST00000256084.7:c.3025G>A ENSP00000256084.7:p.Asp1009Asn
ENST00000359874.7:c.3115G>A ENSP00000352936.3:p.Asp1039Asn
NM_001127698.1:c.3115G>A NP_001121170.1:p.Asp1039Asn
NM_006846.3:c.3025G>A , LRG_110t1:c.3025G>A NP_006837.2:p.Asp1009Asn
XM_011537550.1:c.3058G>A XP_011535852.1:p.Asp1020Asn
XM_011537551.1:c.3031G>A XP_011535853.1:p.Asp1011Asn
XM_011537551.2:c.3031G>A XP_011535853.1:p.Asp1011Asn
NM_001127698.2:c.3115G>A NP_001121170.1:p.Asp1039Asn
NM_006846.4:c.3025G>A MANE Select NP_006837.2:p.Asp1009Asn