Canonical Allele Identifier: CA2587208934

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015641C>A , CM000681.2:g.55015641C>A GRCh38
NC_000019.8:g.60218821C>A NCBI36
NG_031963.2:g.27624G>T , LRG_560:g.27624G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.779+38G>T (GP6) ENSP00000308782.3:n.779+38G>T
ENST00000333884.2:c.721+42G>T (GP6) ENSP00000334552.2:n.721+42G>T
ENST00000417454.5:c.775+42G>T (GP6) MANE Select ENSP00000394922.1:n.775+42G>T
ENST00000465648.1:n.219+42G>T (GP6)
NM_001083899.2:c.779+38G>T , LRG_560t3:c.779+38G>T (GP6) NP_001077368.2:n.779+38G>T
NM_001256017.2:c.721+42G>T , LRG_560t2:c.721+42G>T (GP6) NP_001242946.2:n.721+42G>T
NM_016363.5:c.775+42G>T , LRG_560t1:c.775+42G>T (GP6) MANE Select NP_057447.5:n.775+42G>T
XR_001754012.2:n.312+9177C>A (GP6-AS1)
XR_001754013.2:n.305+9177C>A (GP6-AS1)