Canonical Allele Identifier: CA407479276
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1332102886
gnomAD v4: 19-55015723-C-G
MyVariant Identifiers: chr19:g.55015723C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015723C>G , CM000681.2:g.55015723C>G GRCh38
NC_000019.8:g.60218903C>G NCBI36
NG_031963.2:g.27542G>C , LRG_560:g.27542G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.735G>C (GP6) ENSP00000308782.3:p.Arg245Ser
ENST00000333884.2:c.681G>C (GP6) ENSP00000334552.2:p.Arg227Ser
ENST00000417454.5:c.735G>C (GP6) MANE Select ENSP00000394922.1:p.Arg245Ser
ENST00000465648.1:n.179G>C (GP6)
NM_001083899.2:c.735G>C , LRG_560t3:c.735G>C (GP6) NP_001077368.2:p.Arg245Ser
NM_001256017.2:c.681G>C , LRG_560t2:c.681G>C (GP6) NP_001242946.2:p.Arg227Ser
NM_016363.5:c.735G>C , LRG_560t1:c.735G>C (GP6) MANE Select NP_057447.5:p.Arg245Ser
XR_001754012.2:n.312+9259C>G (GP6-AS1)
XR_001754013.2:n.305+9259C>G (GP6-AS1)
Search 100 bp 5'
Search 100 bp 3'