Canonical Allele Identifier: CA446938262
Gene: SPINK5 HGNC NCBI

Linked Data

dbSNP Id: rs1754564014
MyVariant Identifiers: chr5:g.147510827T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131264T>C , CM000667.2:g.148131264T>C GRCh38
NC_000005.9:g.147510827T>C , CM000667.1:g.147510827T>C GRCh37
NC_000005.8:g.147491020T>C NCBI36
NG_009633.1:g.72293T>C , LRG_110:g.72293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2970T>C MANE Select ENSP00000256084.7:p.Ser990=
ENST00000256084.7:c.2970T>C ENSP00000256084.7:p.Ser990=
ENST00000359874.7:c.3060T>C ENSP00000352936.3:p.Ser1020=
NM_001127698.1:c.3060T>C NP_001121170.1:p.Ser1020=
NM_006846.3:c.2970T>C , LRG_110t1:c.2970T>C NP_006837.2:p.Ser990=
XM_011537550.1:c.3003T>C XP_011535852.1:p.Ser1001=
XM_011537551.1:c.2976T>C XP_011535853.1:p.Ser992=
XM_011537551.2:c.2976T>C XP_011535853.1:p.Ser992=
NM_001127698.2:c.3060T>C NP_001121170.1:p.Ser1020=
NM_006846.4:c.2970T>C MANE Select NP_006837.2:p.Ser990=