Canonical Allele Identifier: CA697096824

Gene: POMP

Linked Data

• dbSNP Id: rs936096892
• gnomAD v3: 13-28659172-A-T
• gnomAD v4: 13-28659172-A-T
• MyVariant Identifiers: chr13:g.29233309A>T (hg19) ; chr13:g.28659172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659172A>T , CM000675.2:g.28659172A>T	GRCh38
NC_000013.10:g.29233309A>T , CM000675.1:g.29233309A>T	GRCh37
NC_000013.9:g.28131309A>T	NCBI36
NG_027550.1:g.5169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-261A>T	ENSP00000513386.1:n.-261A>T
ENST00000697716.1:c.-98A>T	ENSP00000513414.1:n.-98A>T
ENST00000697717.1:c.-13A>T	ENSP00000513415.1:n.-13A>T
ENST00000697718.1:c.-13A>T	ENSP00000513416.1:n.-13A>T
ENST00000380842.5:c.-13A>T MANE Select	ENSP00000370222.4:n.-13A>T
ENST00000380842.4:c.-13A>T	ENSP00000370222.4:n.-13A>T
ENST00000460403.1:n.69A>T
NM_015932.5:c.-13A>T	NP_057016.1:n.-13A>T
NM_015932.6:c.-13A>T MANE Select	NP_057016.1:n.-13A>T