Canonical Allele Identifier: CA2798636135

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659163G>T , CM000675.2:g.28659163G>T	GRCh38
NC_000013.10:g.29233300G>T , CM000675.1:g.29233300G>T	GRCh37
NC_000013.9:g.28131300G>T	NCBI36
NG_027550.1:g.5160G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697716.1:c.-107G>T	ENSP00000513414.1:n.-107G>T
ENST00000697717.1:c.-22G>T	ENSP00000513415.1:n.-22G>T
ENST00000697718.1:c.-22G>T	ENSP00000513416.1:n.-22G>T
ENST00000380842.5:c.-22G>T MANE Select	ENSP00000370222.4:n.-22G>T
ENST00000380842.4:c.-22G>T	ENSP00000370222.4:n.-22G>T
ENST00000460403.1:n.60G>T
NM_015932.5:c.-22G>T	NP_057016.1:n.-22G>T
NM_015932.6:c.-22G>T MANE Select	NP_057016.1:n.-22G>T