Canonical Allele Identifier: CA247677298

Gene: POMP

Linked Data

• dbSNP Id: rs1025738802
• gnomAD v2: 13-29233616-T-A
• gnomAD v3: 13-28659479-T-A
• gnomAD v4: 13-28659479-T-A
• MyVariant Identifiers: chr13:g.29233616T>A (hg19) ; chr13:g.28659479T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659479T>A , CM000675.2:g.28659479T>A	GRCh38
NC_000013.10:g.29233616T>A , CM000675.1:g.29233616T>A	GRCh37
NC_000013.9:g.28131616T>A	NCBI36
NG_027550.1:g.5476T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+292T>A	ENSP00000513386.1:n.-246+292T>A
ENST00000697662.1:c.-282+292T>A	ENSP00000513387.1:n.-282+292T>A
ENST00000697716.1:c.-83+292T>A	ENSP00000513414.1:n.-83+292T>A
ENST00000697717.1:c.3+292T>A	ENSP00000513415.1:n.3+292T>A
ENST00000697718.1:c.3+292T>A	ENSP00000513416.1:n.3+292T>A
ENST00000697719.1:c.-260T>A	ENSP00000513417.1:n.-260T>A
ENST00000697720.1:c.-418T>A	ENSP00000513418.1:n.-418T>A
ENST00000380842.5:c.3+292T>A MANE Select	ENSP00000370222.4:n.3+292T>A
ENST00000380842.4:c.3+292T>A	ENSP00000370222.4:n.3+292T>A
ENST00000460403.1:n.84+292T>A
NM_015932.5:c.3+292T>A	NP_057016.1:n.3+292T>A
XR_941802.1:n.285T>A
NM_015932.6:c.3+292T>A MANE Select	NP_057016.1:n.3+292T>A