Canonical Allele Identifier: CA361646590
Community Standard Title: NM_006846.4(SPINK5):c.2467A>C (p.Lys823Gln)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148120320A>C , CM000667.2:g.148120320A>C GRCh38
NC_000005.9:g.147499883A>C , CM000667.1:g.147499883A>C GRCh37
NC_000005.8:g.147480076A>C NCBI36
NG_009633.1:g.61349A>C , LRG_110:g.61349A>C

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.2467A>C MANE Select NP_006837.2:p.Lys823Gln
ENST00000256084.8:c.2467A>C MANE Select ENSP00000256084.7:p.Lys823Gln
NM_001127698.1:c.2467A>C NP_001121170.1:p.Lys823Gln
NM_001127698.2:c.2467A>C NP_001121170.1:p.Lys823Gln
NM_001127699.1:c.2467A>C NP_001121171.1:p.Lys823Gln
NM_001127699.2:c.2467A>C NP_001121171.1:p.Lys823Gln
NM_006846.3:c.2467A>C , LRG_110t1:c.2467A>C NP_006837.2:p.Lys823Gln
ENST00000256084.7:c.2467A>C ENSP00000256084.7:p.Lys823Gln
ENST00000359874.7:c.2467A>C ENSP00000352936.3:p.Lys823Gln
ENST00000398454.5:c.2467A>C ENSP00000381472.1:p.Lys823Gln
ENST00000508733.5:c.2410A>C ENSP00000421519.1:p.Lys804Gln
XM_011537550.1:c.2410A>C XP_011535852.1:p.Lys804Gln
XM_011537551.1:c.2383A>C XP_011535853.1:p.Lys795Gln
XM_011537551.2:c.2383A>C XP_011535853.1:p.Lys795Gln