Canonical Allele Identifier: CA446938271
Gene: SPINK5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.147510848A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131285A>T , CM000667.2:g.148131285A>T GRCh38
NC_000005.9:g.147510848A>T , CM000667.1:g.147510848A>T GRCh37
NC_000005.8:g.147491041A>T NCBI36
NG_009633.1:g.72314A>T , LRG_110:g.72314A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2991A>T MANE Select ENSP00000256084.7:p.Arg997=
ENST00000256084.7:c.2991A>T ENSP00000256084.7:p.Arg997=
ENST00000359874.7:c.3081A>T ENSP00000352936.3:p.Arg1027=
NM_001127698.1:c.3081A>T NP_001121170.1:p.Arg1027=
NM_006846.3:c.2991A>T , LRG_110t1:c.2991A>T NP_006837.2:p.Arg997=
XM_011537550.1:c.3024A>T XP_011535852.1:p.Arg1008=
XM_011537551.1:c.2997A>T XP_011535853.1:p.Arg999=
XM_011537551.2:c.2997A>T XP_011535853.1:p.Arg999=
NM_001127698.2:c.3081A>T NP_001121170.1:p.Arg1027=
NM_006846.4:c.2991A>T MANE Select NP_006837.2:p.Arg997=