Canonical Allele Identifier: CA2081142158

Gene: POMP

Linked Data

• dbSNP Id: rs1014348287

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659477C>G , CM000675.2:g.28659477C>G	GRCh38
NC_000013.10:g.29233614C>G , CM000675.1:g.29233614C>G	GRCh37
NC_000013.9:g.28131614C>G	NCBI36
NG_027550.1:g.5474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+290C>G	ENSP00000513386.1:n.-246+290C>G
ENST00000697662.1:c.-282+290C>G	ENSP00000513387.1:n.-282+290C>G
ENST00000697716.1:c.-83+290C>G	ENSP00000513414.1:n.-83+290C>G
ENST00000697717.1:c.3+290C>G	ENSP00000513415.1:n.3+290C>G
ENST00000697718.1:c.3+290C>G	ENSP00000513416.1:n.3+290C>G
ENST00000697719.1:c.-262C>G	ENSP00000513417.1:n.-262C>G
ENST00000697720.1:c.-420C>G	ENSP00000513418.1:n.-420C>G
ENST00000380842.5:c.3+290C>G MANE Select	ENSP00000370222.4:n.3+290C>G
ENST00000380842.4:c.3+290C>G	ENSP00000370222.4:n.3+290C>G
ENST00000460403.1:n.84+290C>G
NM_015932.5:c.3+290C>G	NP_057016.1:n.3+290C>G
XR_941802.1:n.283C>G
NM_015932.6:c.3+290C>G MANE Select	NP_057016.1:n.3+290C>G