Canonical Allele Identifier: CA3495567
Community Standard Title: NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148101817G>T , CM000667.2:g.148101817G>T GRCh38
NC_000005.9:g.147481380G>T , CM000667.1:g.147481380G>T GRCh37
NC_000005.8:g.147461573G>T NCBI36
NG_009633.1:g.42846G>T , LRG_110:g.42846G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.1339G>T MANE Select NP_006837.2:p.Gly447Ter
ENST00000256084.8:c.1339G>T MANE Select ENSP00000256084.7:p.Gly447Ter
NM_001127698.1:c.1339G>T NP_001121170.1:p.Gly447Ter
NM_001127698.2:c.1339G>T NP_001121170.1:p.Gly447Ter
NM_001127699.1:c.1339G>T NP_001121171.1:p.Gly447Ter
NM_001127699.2:c.1339G>T NP_001121171.1:p.Gly447Ter
NM_006846.3:c.1339G>T , LRG_110t1:c.1339G>T NP_006837.2:p.Gly447Ter
ENST00000256084.7:c.1339G>T ENSP00000256084.7:p.Gly447Ter
ENST00000359874.7:c.1339G>T ENSP00000352936.3:p.Gly447Ter
ENST00000398454.5:c.1339G>T ENSP00000381472.1:p.Gly447Ter
ENST00000481286.6:n.948G>T
ENST00000507988.5:n.1503G>T
ENST00000508733.5:c.1282G>T ENSP00000421519.1:p.Gly428Ter
XM_011537550.1:c.1282G>T XP_011535852.1:p.Gly428Ter
XM_011537551.1:c.1255G>T XP_011535853.1:p.Gly419Ter
XM_011537551.2:c.1255G>T XP_011535853.1:p.Gly419Ter