Canonical Allele Identifier: CA2830540366

Gene: ADTRP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11714722G>T , CM000668.2:g.11714722G>T	GRCh38
NC_000006.11:g.11714955G>T , CM000668.1:g.11714955G>T	GRCh37
NC_000006.10:g.11822941G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414691.8:c.659-210C>A MANE Select	ENSP00000404416.2:n.659-210C>A
ENST00000229583.9:c.713-210C>A	ENSP00000229583.5:n.713-210C>A
ENST00000414691.7:c.659-210C>A	ENSP00000404416.2:n.659-210C>A
ENST00000505099.5:c.328-210C>A
ENST00000512139.5:n.522-210C>A
ENST00000513651.5:n.384-210C>A
ENST00000514824.5:n.1086-210C>A
NM_001143948.1:c.713-210C>A	NP_001137420.1:n.713-210C>A
NM_032744.3:c.659-210C>A	NP_116133.1:n.659-210C>A
XM_005249454.2:c.659-210C>A	XP_005249511.1:n.659-210C>A
XM_011514956.1:c.765-210C>A	XP_011513258.1:n.765-210C>A
XR_926322.1:n.2389-210C>A
XR_926487.1:n.676+4324G>T
XM_005249454.3:c.659-210C>A	XP_005249511.1:n.659-210C>A
XM_017011377.1:c.378-210C>A	XP_016866866.1:n.378-210C>A
XR_926322.2:n.2389-210C>A
NM_001143948.2:c.713-210C>A	NP_001137420.1:n.713-210C>A
NM_032744.4:c.659-210C>A MANE Select	NP_116133.1:n.659-210C>A