Canonical Allele Identifier: CA407479212
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

gnomAD v4: 19-55015713-C-A
MyVariant Identifiers: chr19:g.55015713C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015713C>A , CM000681.2:g.55015713C>A GRCh38
NC_000019.8:g.60218893C>A NCBI36
NG_031963.2:g.27552G>T , LRG_560:g.27552G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.745G>T (GP6) ENSP00000308782.3:p.Ala249Ser
ENST00000333884.2:c.691G>T (GP6) ENSP00000334552.2:p.Ala231Ser
ENST00000417454.5:c.745G>T (GP6) MANE Select ENSP00000394922.1:p.Ala249Ser
ENST00000465648.1:n.189G>T (GP6)
NM_001083899.2:c.745G>T , LRG_560t3:c.745G>T (GP6) NP_001077368.2:p.Ala249Ser
NM_001256017.2:c.691G>T , LRG_560t2:c.691G>T (GP6) NP_001242946.2:p.Ala231Ser
NM_016363.5:c.745G>T , LRG_560t1:c.745G>T (GP6) MANE Select NP_057447.5:p.Ala249Ser
XR_001754012.2:n.312+9249C>A (GP6-AS1)
XR_001754013.2:n.305+9249C>A (GP6-AS1)
Search 100 bp 5'
Search 100 bp 3'