Canonical Allele Identifier: CA446933174
Gene: SPINK5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.147486644T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107081T>G , CM000667.2:g.148107081T>G GRCh38
NC_000005.9:g.147486644T>G , CM000667.1:g.147486644T>G GRCh37
NC_000005.8:g.147466837T>G NCBI36
NG_009633.1:g.48110T>G , LRG_110:g.48110T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1133T>G
ENST00000256084.8:c.1524T>G MANE Select ENSP00000256084.7:p.Leu508=
ENST00000256084.7:c.1524T>G ENSP00000256084.7:p.Leu508=
ENST00000359874.7:c.1524T>G ENSP00000352936.3:p.Leu508=
ENST00000398454.5:c.1524T>G ENSP00000381472.1:p.Leu508=
ENST00000507988.5:n.1688T>G
ENST00000508733.5:c.1467T>G ENSP00000421519.1:p.Leu489=
NM_001127698.1:c.1524T>G NP_001121170.1:p.Leu508=
NM_001127699.1:c.1524T>G NP_001121171.1:p.Leu508=
NM_006846.3:c.1524T>G , LRG_110t1:c.1524T>G NP_006837.2:p.Leu508=
XM_011537550.1:c.1467T>G XP_011535852.1:p.Leu489=
XM_011537551.1:c.1440T>G XP_011535853.1:p.Leu480=
XM_011537551.2:c.1440T>G XP_011535853.1:p.Leu480=
NM_001127698.2:c.1524T>G NP_001121170.1:p.Leu508=
NM_001127699.2:c.1524T>G NP_001121171.1:p.Leu508=
NM_006846.4:c.1524T>G MANE Select NP_006837.2:p.Leu508=