Canonical Allele Identifier: CA407479309

Linked Data

MyVariant Identifiers: chr19:g.55015730G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015730G>T , CM000681.2:g.55015730G>T GRCh38
NC_000019.8:g.60218910G>T NCBI36
NG_031963.2:g.27535C>A , LRG_560:g.27535C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.728C>A (GP6) ENSP00000308782.3:p.Thr243Asn
ENST00000333884.2:c.674C>A (GP6) ENSP00000334552.2:p.Thr225Asn
ENST00000417454.5:c.728C>A (GP6) MANE Select ENSP00000394922.1:p.Thr243Asn
ENST00000465648.1:n.172C>A (GP6)
NM_001083899.2:c.728C>A , LRG_560t3:c.728C>A (GP6) NP_001077368.2:p.Thr243Asn
NM_001256017.2:c.674C>A , LRG_560t2:c.674C>A (GP6) NP_001242946.2:p.Thr225Asn
NM_016363.5:c.728C>A , LRG_560t1:c.728C>A (GP6) MANE Select NP_057447.5:p.Thr243Asn
XR_001754012.2:n.312+9266G>T (GP6-AS1)
XR_001754013.2:n.305+9266G>T (GP6-AS1)