Canonical Allele Identifier: CA3495808
Gene: SPINK5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.148114438G>A
GRCh37 chr5:g.147494001G>A
Revel Score:
ENST00000398454 0.393
ENST00000359874 0.393
ENST00000508733 0.393
ENST00000256084 (MANE Select) 0.393
gnomAD v2:
5:147494001 G / A
gnomAD v3:
5:148114438 G / A
gnomAD v4:
chr5-148114438-G-A
Joint Max Group AF 0.00439926 (NFE)
Genomes Max Group AF 0.00440619 (NFE)
Exomes Max Group AF 0.00437626 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148114438G>A , CM000667.2:g.148114438G>A GRCh38
NC_000005.9:g.147494001G>A , CM000667.1:g.147494001G>A GRCh37
NC_000005.8:g.147474194G>A NCBI36
NG_009633.1:g.55467G>A , LRG_110:g.55467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.1964G>A MANE Select ENSP00000256084.7:p.Gly655Asp
ENST00000256084.7:c.1964G>A ENSP00000256084.7:p.Gly655Asp
ENST00000359874.7:c.1964G>A ENSP00000352936.3:p.Gly655Asp
ENST00000398454.5:c.1964G>A ENSP00000381472.1:p.Gly655Asp
ENST00000507988.5:n.2128G>A
ENST00000508733.5:c.1907G>A ENSP00000421519.1:p.Gly636Asp
NM_001127698.1:c.1964G>A NP_001121170.1:p.Gly655Asp
NM_001127699.1:c.1964G>A NP_001121171.1:p.Gly655Asp
NM_006846.3:c.1964G>A , LRG_110t1:c.1964G>A NP_006837.2:p.Gly655Asp
XM_011537550.1:c.1907G>A XP_011535852.1:p.Gly636Asp
XM_011537551.1:c.1880G>A XP_011535853.1:p.Gly627Asp
XM_011537551.2:c.1880G>A XP_011535853.1:p.Gly627Asp
NM_001127698.2:c.1964G>A NP_001121170.1:p.Gly655Asp
NM_001127699.2:c.1964G>A NP_001121171.1:p.Gly655Asp
NM_006846.4:c.1964G>A MANE Select NP_006837.2:p.Gly655Asp
Search 100 bp 5'
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