Canonical Allele Identifier: CA310128585
Gene: GP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 257422
ClinVar RCV Id: RCV000241611
dbSNP Id: rs1613662
MyVariant Identifiers: chr19:g.55025227G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55025227G>A , CM000681.2:g.55025227G>A GRCh38
NC_000019.8:g.60228407G>A NCBI36
NG_031963.2:g.18038C>T , LRG_560:g.18038C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.655C>T MANE Select ENSP00000308782.3:p.Pro219Ser
ENST00000333884.2:c.610+2351C>T ENSP00000334552.2:p.=
ENST00000417454.5:c.655C>T ENSP00000394922.1:p.Pro219Ser
NM_001083899.2:c.655C>T , LRG_560t3:c.655C>T MANE Select NP_001077368.2:p.Pro219Ser
NM_001256017.2:c.610+2351C>T , LRG_560t2:c.610+2351C>T NP_001242946.2:p.=
NM_016363.5:c.655C>T , LRG_560t1:c.655C>T NP_057447.5:p.Pro219Ser
XR_001754012.2:n.313-17573G>A
XR_001754013.2:n.306-17573G>A