Canonical Allele Identifier: CA508808755
Gene: SIGLEC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.51960842A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51457588A>G , CM000681.2:g.51457588A>G GRCh38
NC_000019.9:g.51960842A>G , CM000681.1:g.51960842A>G GRCh37
NC_000019.8:g.56652654A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321424.7:c.606T>C MANE Select ENSP00000321077.2:p.Thr202=
ENST00000340550.5:c.454+346T>C ENSP00000339448.4:n.454+346T>C
ENST00000430817.5:c.454+346T>C ENSP00000389142.1:n.454+346T>C
ENST00000597352.1:n.222T>C
NM_014442.2:c.606T>C NP_055257.2:p.Thr202=
XM_011526734.1:c.573T>C XP_011525036.1:p.Thr191=
XM_011526735.1:c.454+346T>C XP_011525037.1:n.454+346T>C
NM_001363548.1:c.454+346T>C NP_001350477.1:n.454+346T>C
XM_011526734.2:c.573T>C XP_011525036.1:p.Thr191=
NM_014442.3:c.606T>C MANE Select NP_055257.2:p.Thr202=