Canonical Allele Identifier: CA407479288
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs980594112
gnomAD v4: 19-55015727-G-T
MyVariant Identifiers: chr19:g.55015727G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015727G>T , CM000681.2:g.55015727G>T GRCh38
NC_000019.8:g.60218907G>T NCBI36
NG_031963.2:g.27538C>A , LRG_560:g.27538C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.731C>A (GP6) ENSP00000308782.3:p.Ser244Tyr
ENST00000333884.2:c.677C>A (GP6) ENSP00000334552.2:p.Ser226Tyr
ENST00000417454.5:c.731C>A (GP6) MANE Select ENSP00000394922.1:p.Ser244Tyr
ENST00000465648.1:n.175C>A (GP6)
NM_001083899.2:c.731C>A , LRG_560t3:c.731C>A (GP6) NP_001077368.2:p.Ser244Tyr
NM_001256017.2:c.677C>A , LRG_560t2:c.677C>A (GP6) NP_001242946.2:p.Ser226Tyr
NM_016363.5:c.731C>A , LRG_560t1:c.731C>A (GP6) MANE Select NP_057447.5:p.Ser244Tyr
XR_001754012.2:n.312+9263G>T (GP6-AS1)
XR_001754013.2:n.305+9263G>T (GP6-AS1)
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