Canonical Allele Identifier: CA407479243
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

gnomAD v4: 19-55015718-A-T
MyVariant Identifiers: chr19:g.55015718A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015718A>T , CM000681.2:g.55015718A>T GRCh38
NC_000019.8:g.60218898A>T NCBI36
NG_031963.2:g.27547T>A , LRG_560:g.27547T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.740T>A (GP6) ENSP00000308782.3:p.Ile247Asn
ENST00000333884.2:c.686T>A (GP6) ENSP00000334552.2:p.Ile229Asn
ENST00000417454.5:c.740T>A (GP6) MANE Select ENSP00000394922.1:p.Ile247Asn
ENST00000465648.1:n.184T>A (GP6)
NM_001083899.2:c.740T>A , LRG_560t3:c.740T>A (GP6) NP_001077368.2:p.Ile247Asn
NM_001256017.2:c.686T>A , LRG_560t2:c.686T>A (GP6) NP_001242946.2:p.Ile229Asn
NM_016363.5:c.740T>A , LRG_560t1:c.740T>A (GP6) MANE Select NP_057447.5:p.Ile247Asn
XR_001754012.2:n.312+9254A>T (GP6-AS1)
XR_001754013.2:n.305+9254A>T (GP6-AS1)
Search 100 bp 5'
Search 100 bp 3'