Canonical Allele Identifier: CA2081142062

Gene: POMP

Linked Data

• dbSNP Id: rs1884291902
• gnomAD v4: 13-28659324-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659324A>G , CM000675.2:g.28659324A>G	GRCh38
NC_000013.10:g.29233461A>G , CM000675.1:g.29233461A>G	GRCh37
NC_000013.9:g.28131461A>G	NCBI36
NG_027550.1:g.5321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+137A>G	ENSP00000513386.1:n.-246+137A>G
ENST00000697662.1:c.-282+137A>G	ENSP00000513387.1:n.-282+137A>G
ENST00000697716.1:c.-83+137A>G	ENSP00000513414.1:n.-83+137A>G
ENST00000697717.1:c.3+137A>G	ENSP00000513415.1:n.3+137A>G
ENST00000697718.1:c.3+137A>G	ENSP00000513416.1:n.3+137A>G
ENST00000380842.5:c.3+137A>G MANE Select	ENSP00000370222.4:n.3+137A>G
ENST00000380842.4:c.3+137A>G	ENSP00000370222.4:n.3+137A>G
ENST00000460403.1:n.84+137A>G
NM_015932.5:c.3+137A>G	NP_057016.1:n.3+137A>G
XR_941802.1:n.130A>G
NM_015932.6:c.3+137A>G MANE Select	NP_057016.1:n.3+137A>G