Canonical Allele Identifier: CA247677286

Gene: POMP

Linked Data

• dbSNP Id: rs1005227532
• gnomAD v3: 13-28659428-G-A
• gnomAD v4: 13-28659428-G-A
• MyVariant Identifiers: chr13:g.29233565G>A (hg19) ; chr13:g.28659428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659428G>A , CM000675.2:g.28659428G>A	GRCh38
NC_000013.10:g.29233565G>A , CM000675.1:g.29233565G>A	GRCh37
NC_000013.9:g.28131565G>A	NCBI36
NG_027550.1:g.5425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+241G>A	ENSP00000513386.1:n.-246+241G>A
ENST00000697662.1:c.-282+241G>A	ENSP00000513387.1:n.-282+241G>A
ENST00000697716.1:c.-83+241G>A	ENSP00000513414.1:n.-83+241G>A
ENST00000697717.1:c.3+241G>A	ENSP00000513415.1:n.3+241G>A
ENST00000697718.1:c.3+241G>A	ENSP00000513416.1:n.3+241G>A
ENST00000697719.1:c.-311G>A	ENSP00000513417.1:n.-311G>A
ENST00000697720.1:c.-469G>A	ENSP00000513418.1:n.-469G>A
ENST00000380842.5:c.3+241G>A MANE Select	ENSP00000370222.4:n.3+241G>A
ENST00000380842.4:c.3+241G>A	ENSP00000370222.4:n.3+241G>A
ENST00000460403.1:n.84+241G>A
NM_015932.5:c.3+241G>A	NP_057016.1:n.3+241G>A
XR_941802.1:n.234G>A
NM_015932.6:c.3+241G>A MANE Select	NP_057016.1:n.3+241G>A