Canonical Allele Identifier: CA407477259

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55014977T>A , CM000681.2:g.55014977T>A GRCh38
NC_000019.8:g.60218157T>A NCBI36
NG_031963.2:g.28288A>T , LRG_560:g.28288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.968A>T (GP6) ENSP00000308782.3:p.Lys323Ile
ENST00000333884.2:c.910A>T (GP6) ENSP00000334552.2:p.Asn304Tyr
ENST00000417454.5:c.964A>T (GP6) MANE Select ENSP00000394922.1:p.Asn322Tyr
ENST00000465648.1:n.408A>T (GP6)
NM_001083899.2:c.968A>T , LRG_560t3:c.968A>T (GP6) NP_001077368.2:p.Lys323Ile
NM_001256017.2:c.910A>T , LRG_560t2:c.910A>T (GP6) NP_001242946.2:p.Asn304Tyr
NM_016363.5:c.964A>T , LRG_560t1:c.964A>T (GP6) MANE Select NP_057447.5:p.Asn322Tyr
XR_001754012.2:n.312+8513T>A (GP6-AS1)
XR_001754013.2:n.305+8513T>A (GP6-AS1)