Canonical Allele Identifier: CA361888653
Community Standard Title: NM_006846.4(SPINK5):c.209+1G>A
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148070451G>A , CM000667.2:g.148070451G>A GRCh38
NC_000005.9:g.147450014G>A , CM000667.1:g.147450014G>A GRCh37
NC_000005.8:g.147430207G>A NCBI36
NG_009633.1:g.11480G>A , LRG_110:g.11480G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.209+1G>A MANE Select NP_006837.2:n.209+1G>A
ENST00000256084.8:c.209+1G>A MANE Select ENSP00000256084.7:n.209+1G>A
NM_001127698.1:c.209+1G>A NP_001121170.1:n.209+1G>A
NM_001127698.2:c.209+1G>A NP_001121170.1:n.209+1G>A
NM_001127699.1:c.209+1G>A NP_001121171.1:n.209+1G>A
NM_001127699.2:c.209+1G>A NP_001121171.1:n.209+1G>A
NM_006846.3:c.209+1G>A , LRG_110t1:c.209+1G>A NP_006837.2:n.209+1G>A
ENST00000256084.7:c.209+1G>A ENSP00000256084.7:n.209+1G>A
ENST00000359874.7:c.209+1G>A ENSP00000352936.3:n.209+1G>A
ENST00000398454.5:c.209+1G>A ENSP00000381472.1:n.209+1G>A
ENST00000476697.7:c.209+1G>A ENSP00000427943.1:n.209+1G>A
ENST00000507988.5:n.373+1G>A
ENST00000508733.5:c.152+1G>A ENSP00000421519.1:n.152+1G>A
ENST00000521206.5:c.152+1G>A ENSP00000430264.1:n.152+1G>A
XM_011537550.1:c.152+1G>A XP_011535852.1:n.152+1G>A
XM_011537551.1:c.125+1G>A XP_011535853.1:n.125+1G>A
XM_011537551.2:c.125+1G>A XP_011535853.1:n.125+1G>A