Canonical Allele Identifier: CA310132015
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55030031A>G
gnomAD v3:
19:55030031 A / G
gnomAD v4:
chr19-55030031-A-G
Joint Max Group AF 0.54247921 (EAS)
Genomes Max Group AF 0.54247921 (EAS)
dbSNP:
12610286
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55030031A>G , CM000681.2:g.55030031A>G GRCh38
NC_000019.8:g.60233211A>G NCBI36
NG_031963.2:g.13234T>C , LRG_560:g.13234T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.325+2108T>C (GP6) ENSP00000308782.3:n.325+2108T>C
ENST00000333884.2:c.325+2108T>C (GP6) ENSP00000334552.2:n.325+2108T>C
ENST00000417454.5:c.325+2108T>C (GP6) MANE Select ENSP00000394922.1:n.325+2108T>C
ENST00000468239.1:c.94+2108T>C (GP6) ENSP00000464922.1:n.94+2108T>C
NM_001083899.2:c.325+2108T>C , LRG_560t3:c.325+2108T>C (GP6) NP_001077368.2:n.325+2108T>C
NM_001256017.2:c.325+2108T>C , LRG_560t2:c.325+2108T>C (GP6) NP_001242946.2:n.325+2108T>C
NM_016363.5:c.325+2108T>C , LRG_560t1:c.325+2108T>C (GP6) MANE Select NP_057447.5:n.325+2108T>C
XR_001754012.2:n.313-12769A>G (GP6-AS1)
XR_001754013.2:n.306-12769A>G (GP6-AS1)
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