Canonical Allele Identifier: CA508808759

Gene: SIGLEC8

Linked Data

• dbSNP Id: rs1338849378
• gnomAD v2: 19-51960845-G-A
• gnomAD v4: 19-51457591-G-A
• MyVariant Identifiers: chr19:g.51960845G>A (hg19) ; chr19:g.51457591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51457591G>A , CM000681.2:g.51457591G>A	GRCh38
NC_000019.9:g.51960845G>A , CM000681.1:g.51960845G>A	GRCh37
NC_000019.8:g.56652657G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321424.7:c.603C>T MANE Select	ENSP00000321077.2:p.Pro201=
ENST00000340550.5:c.454+343C>T	ENSP00000339448.4:n.454+343C>T
ENST00000430817.5:c.454+343C>T	ENSP00000389142.1:n.454+343C>T
ENST00000597352.1:n.219C>T
NM_014442.2:c.603C>T	NP_055257.2:p.Pro201=
XM_011526734.1:c.570C>T	XP_011525036.1:p.Pro190=
XM_011526735.1:c.454+343C>T	XP_011525037.1:n.454+343C>T
NM_001363548.1:c.454+343C>T	NP_001350477.1:n.454+343C>T
XM_011526734.2:c.570C>T	XP_011525036.1:p.Pro190=
NM_014442.3:c.603C>T MANE Select	NP_055257.2:p.Pro201=