Canonical Allele Identifier: CA2675859663
Gene: SPINK5 HGNC NCBI

Linked Data

gnomAD v4: 5-148131214-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131214C>A , CM000667.2:g.148131214C>A GRCh38
NC_000005.9:g.147510777C>A , CM000667.1:g.147510777C>A GRCh37
NC_000005.8:g.147490970C>A NCBI36
NG_009633.1:g.72243C>A , LRG_110:g.72243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2965-45C>A MANE Select ENSP00000256084.7:n.2965-45C>A
ENST00000256084.7:c.2965-45C>A ENSP00000256084.7:n.2965-45C>A
ENST00000359874.7:c.3055-45C>A ENSP00000352936.3:n.3055-45C>A
NM_001127698.1:c.3055-45C>A NP_001121170.1:n.3055-45C>A
NM_006846.3:c.2965-45C>A , LRG_110t1:c.2965-45C>A NP_006837.2:n.2965-45C>A
XM_011537550.1:c.2998-45C>A XP_011535852.1:n.2998-45C>A
XM_011537551.1:c.2971-45C>A XP_011535853.1:n.2971-45C>A
XM_011537551.2:c.2971-45C>A XP_011535853.1:n.2971-45C>A
NM_001127698.2:c.3055-45C>A NP_001121170.1:n.3055-45C>A
NM_006846.4:c.2965-45C>A MANE Select NP_006837.2:n.2965-45C>A
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