Canonical Allele Identifier: CA954447116

Gene: POMP

Linked Data

• dbSNP Id: rs1023839248
• gnomAD v3: 13-28659274-C-T
• gnomAD v4: 13-28659274-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659274C>T , CM000675.2:g.28659274C>T	GRCh38
NC_000013.10:g.29233411C>T , CM000675.1:g.29233411C>T	GRCh37
NC_000013.9:g.28131411C>T	NCBI36
NG_027550.1:g.5271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+87C>T	ENSP00000513386.1:n.-246+87C>T
ENST00000697662.1:c.-282+87C>T	ENSP00000513387.1:n.-282+87C>T
ENST00000697716.1:c.-83+87C>T	ENSP00000513414.1:n.-83+87C>T
ENST00000697717.1:c.3+87C>T	ENSP00000513415.1:n.3+87C>T
ENST00000697718.1:c.3+87C>T	ENSP00000513416.1:n.3+87C>T
ENST00000380842.5:c.3+87C>T MANE Select	ENSP00000370222.4:n.3+87C>T
ENST00000380842.4:c.3+87C>T	ENSP00000370222.4:n.3+87C>T
ENST00000460403.1:n.84+87C>T
NM_015932.5:c.3+87C>T	NP_057016.1:n.3+87C>T
XR_941802.1:n.80C>T
NM_015932.6:c.3+87C>T MANE Select	NP_057016.1:n.3+87C>T