Canonical Allele Identifier: CA2081142119

Gene: POMP

Linked Data

• dbSNP Id: rs1884293916

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659409T>C , CM000675.2:g.28659409T>C	GRCh38
NC_000013.10:g.29233546T>C , CM000675.1:g.29233546T>C	GRCh37
NC_000013.9:g.28131546T>C	NCBI36
NG_027550.1:g.5406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+222T>C	ENSP00000513386.1:n.-246+222T>C
ENST00000697662.1:c.-282+222T>C	ENSP00000513387.1:n.-282+222T>C
ENST00000697716.1:c.-83+222T>C	ENSP00000513414.1:n.-83+222T>C
ENST00000697717.1:c.3+222T>C	ENSP00000513415.1:n.3+222T>C
ENST00000697718.1:c.3+222T>C	ENSP00000513416.1:n.3+222T>C
ENST00000697719.1:c.-330T>C	ENSP00000513417.1:n.-330T>C
ENST00000697720.1:c.-488T>C	ENSP00000513418.1:n.-488T>C
ENST00000380842.5:c.3+222T>C MANE Select	ENSP00000370222.4:n.3+222T>C
ENST00000380842.4:c.3+222T>C	ENSP00000370222.4:n.3+222T>C
ENST00000460403.1:n.84+222T>C
NM_015932.5:c.3+222T>C	NP_057016.1:n.3+222T>C
XR_941802.1:n.215T>C
NM_015932.6:c.3+222T>C MANE Select	NP_057016.1:n.3+222T>C