Canonical Allele Identifier: CA2622506737

Gene: POMP

Linked Data

• gnomAD v4: 13-28659181-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659181G>T , CM000675.2:g.28659181G>T	GRCh38
NC_000013.10:g.29233318G>T , CM000675.1:g.29233318G>T	GRCh37
NC_000013.9:g.28131318G>T	NCBI36
NG_027550.1:g.5178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-252G>T	ENSP00000513386.1:n.-252G>T
ENST00000697662.1:c.-288G>T	ENSP00000513387.1:n.-288G>T
ENST00000697716.1:c.-89G>T	ENSP00000513414.1:n.-89G>T
ENST00000697717.1:c.-4G>T	ENSP00000513415.1:n.-4G>T
ENST00000697718.1:c.-4G>T	ENSP00000513416.1:n.-4G>T
ENST00000380842.5:c.-4G>T MANE Select	ENSP00000370222.4:n.-4G>T
ENST00000380842.4:c.-4G>T	ENSP00000370222.4:n.-4G>T
ENST00000460403.1:n.78G>T
NM_015932.5:c.-4G>T	NP_057016.1:n.-4G>T
NM_015932.6:c.-4G>T MANE Select	NP_057016.1:n.-4G>T