Canonical Allele Identifier: CA2727706883

Gene: POMP

Linked Data

• dbSNP Id: rs2137787362

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659396T>C , CM000675.2:g.28659396T>C	GRCh38
NC_000013.10:g.29233533T>C , CM000675.1:g.29233533T>C	GRCh37
NC_000013.9:g.28131533T>C	NCBI36
NG_027550.1:g.5393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+209T>C	ENSP00000513386.1:n.-246+209T>C
ENST00000697662.1:c.-282+209T>C	ENSP00000513387.1:n.-282+209T>C
ENST00000697716.1:c.-83+209T>C	ENSP00000513414.1:n.-83+209T>C
ENST00000697717.1:c.3+209T>C	ENSP00000513415.1:n.3+209T>C
ENST00000697718.1:c.3+209T>C	ENSP00000513416.1:n.3+209T>C
ENST00000380842.5:c.3+209T>C MANE Select	ENSP00000370222.4:n.3+209T>C
ENST00000380842.4:c.3+209T>C	ENSP00000370222.4:n.3+209T>C
ENST00000460403.1:n.84+209T>C
NM_015932.5:c.3+209T>C	NP_057016.1:n.3+209T>C
XR_941802.1:n.202T>C
NM_015932.6:c.3+209T>C MANE Select	NP_057016.1:n.3+209T>C