Canonical Allele Identifier: CA3496136
Community Standard Title: NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148125741C>T , CM000667.2:g.148125741C>T GRCh38
NC_000005.9:g.147505304C>T , CM000667.1:g.147505304C>T GRCh37
NC_000005.8:g.147485497C>T NCBI36
NG_009633.1:g.66770C>T , LRG_110:g.66770C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.2758C>T MANE Select NP_006837.2:p.Arg920Ter
ENST00000256084.8:c.2758C>T MANE Select ENSP00000256084.7:p.Arg920Ter
NM_001127698.1:c.2848C>T NP_001121170.1:p.Arg950Ter
NM_001127698.2:c.2848C>T NP_001121170.1:p.Arg950Ter
NM_006846.3:c.2758C>T , LRG_110t1:c.2758C>T NP_006837.2:p.Arg920Ter
ENST00000256084.7:c.2758C>T ENSP00000256084.7:p.Arg920Ter
ENST00000359874.7:c.2848C>T ENSP00000352936.3:p.Arg950Ter
XM_011537550.1:c.2791C>T XP_011535852.1:p.Arg931Ter
XM_011537551.1:c.2764C>T XP_011535853.1:p.Arg922Ter
XM_011537551.2:c.2764C>T XP_011535853.1:p.Arg922Ter