Canonical Allele Identifier: CA407074456

Gene: SIGLEC8

Linked Data

• MyVariant Identifiers: chr19:g.51960849C>T (hg19) ; chr19:g.51457595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51457595C>T , CM000681.2:g.51457595C>T	GRCh38
NC_000019.9:g.51960849C>T , CM000681.1:g.51960849C>T	GRCh37
NC_000019.8:g.56652661C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321424.7:c.599G>A MANE Select	ENSP00000321077.2:p.Gly200Asp
ENST00000340550.5:c.454+339G>A	ENSP00000339448.4:n.454+339G>A
ENST00000430817.5:c.454+339G>A	ENSP00000389142.1:n.454+339G>A
ENST00000597352.1:n.215G>A
NM_014442.2:c.599G>A	NP_055257.2:p.Gly200Asp
XM_011526734.1:c.566G>A	XP_011525036.1:p.Gly189Asp
XM_011526735.1:c.454+339G>A	XP_011525037.1:n.454+339G>A
NM_001363548.1:c.454+339G>A	NP_001350477.1:n.454+339G>A
XM_011526734.2:c.566G>A	XP_011525036.1:p.Gly189Asp
NM_014442.3:c.599G>A MANE Select	NP_055257.2:p.Gly200Asp