Canonical Allele Identifier: CA3495094
Community Standard Title: NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148065371A>G , CM000667.2:g.148065371A>G GRCh38
NC_000005.9:g.147444934A>G , CM000667.1:g.147444934A>G GRCh37
NC_000005.8:g.147425127A>G NCBI36
NG_009633.1:g.6400A>G , LRG_110:g.6400A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.80A>G MANE Select NP_006837.2:p.Gln27Arg
ENST00000256084.8:c.80A>G MANE Select ENSP00000256084.7:p.Gln27Arg
NM_001127698.1:c.80A>G NP_001121170.1:p.Gln27Arg
NM_001127698.2:c.80A>G NP_001121170.1:p.Gln27Arg
NM_001127699.1:c.80A>G NP_001121171.1:p.Gln27Arg
NM_001127699.2:c.80A>G NP_001121171.1:p.Gln27Arg
NM_006846.3:c.80A>G , LRG_110t1:c.80A>G NP_006837.2:p.Gln27Arg
ENST00000256084.7:c.80A>G ENSP00000256084.7:p.Gln27Arg
ENST00000359874.7:c.80A>G ENSP00000352936.3:p.Gln27Arg
ENST00000398454.5:c.80A>G ENSP00000381472.1:p.Gln27Arg
ENST00000476697.7:c.80A>G ENSP00000427943.1:p.Gln27Arg
ENST00000507988.5:n.141A>G
ENST00000508733.5:c.80A>G ENSP00000421519.1:p.Gln27Arg
ENST00000521206.5:c.80A>G ENSP00000430264.1:p.Gln27Arg
XM_011537550.1:c.80A>G XP_011535852.1:p.Gln27Arg
XM_011537551.1:c.-108A>G XP_011535853.1:n.-108A>G
XM_011537551.2:c.-108A>G XP_011535853.1:n.-108A>G