Canonical Allele Identifier: CA446933155
Gene: SPINK5 HGNC NCBI

Linked Data

dbSNP Id: rs1753800900
MyVariant Identifiers: chr5:g.147486629G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107066G>A , CM000667.2:g.148107066G>A GRCh38
NC_000005.9:g.147486629G>A , CM000667.1:g.147486629G>A GRCh37
NC_000005.8:g.147466822G>A NCBI36
NG_009633.1:g.48095G>A , LRG_110:g.48095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1118G>A
ENST00000256084.8:c.1509G>A MANE Select ENSP00000256084.7:p.Val503=
ENST00000256084.7:c.1509G>A ENSP00000256084.7:p.Val503=
ENST00000359874.7:c.1509G>A ENSP00000352936.3:p.Val503=
ENST00000398454.5:c.1509G>A ENSP00000381472.1:p.Val503=
ENST00000507988.5:n.1673G>A
ENST00000508733.5:c.1452G>A ENSP00000421519.1:p.Val484=
NM_001127698.1:c.1509G>A NP_001121170.1:p.Val503=
NM_001127699.1:c.1509G>A NP_001121171.1:p.Val503=
NM_006846.3:c.1509G>A , LRG_110t1:c.1509G>A NP_006837.2:p.Val503=
XM_011537550.1:c.1452G>A XP_011535852.1:p.Val484=
XM_011537551.1:c.1425G>A XP_011535853.1:p.Val475=
XM_011537551.2:c.1425G>A XP_011535853.1:p.Val475=
NM_001127698.2:c.1509G>A NP_001121170.1:p.Val503=
NM_001127699.2:c.1509G>A NP_001121171.1:p.Val503=
NM_006846.4:c.1509G>A MANE Select NP_006837.2:p.Val503=