Canonical Allele Identifier: CA883669333

Gene: GP6 GP6-AS1

Linked Data

• dbSNP Id: rs1471063999
• gnomAD v3: 19-55015656-G-A
• gnomAD v4: 19-55015656-G-A
• MyVariant Identifiers: chr19:g.55015656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015656G>A , CM000681.2:g.55015656G>A	GRCh38
NC_000019.8:g.60218836G>A	NCBI36
NG_031963.2:g.27609C>T , LRG_560:g.27609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310373.7:c.779+23C>T (GP6)	ENSP00000308782.3:n.779+23C>T
ENST00000333884.2:c.721+27C>T (GP6)	ENSP00000334552.2:n.721+27C>T
ENST00000417454.5:c.775+27C>T (GP6) MANE Select	ENSP00000394922.1:n.775+27C>T
ENST00000465648.1:n.219+27C>T (GP6)
NM_001083899.2:c.779+23C>T , LRG_560t3:c.779+23C>T (GP6)	NP_001077368.2:n.779+23C>T
NM_001256017.2:c.721+27C>T , LRG_560t2:c.721+27C>T (GP6)	NP_001242946.2:n.721+27C>T
NM_016363.5:c.775+27C>T , LRG_560t1:c.775+27C>T (GP6) MANE Select	NP_057447.5:n.775+27C>T
XR_001754012.2:n.312+9192G>A (GP6-AS1)
XR_001754013.2:n.305+9192G>A (GP6-AS1)