Canonical Allele Identifier: CA247677294

Gene: POMP

Linked Data

• dbSNP Id: rs898256574
• gnomAD v2: 13-29233605-C-T
• gnomAD v3: 13-28659468-C-T
• gnomAD v4: 13-28659468-C-T
• MyVariant Identifiers: chr13:g.29233605C>T (hg19) ; chr13:g.28659468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659468C>T , CM000675.2:g.28659468C>T	GRCh38
NC_000013.10:g.29233605C>T , CM000675.1:g.29233605C>T	GRCh37
NC_000013.9:g.28131605C>T	NCBI36
NG_027550.1:g.5465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+281C>T	ENSP00000513386.1:n.-246+281C>T
ENST00000697662.1:c.-282+281C>T	ENSP00000513387.1:n.-282+281C>T
ENST00000697716.1:c.-83+281C>T	ENSP00000513414.1:n.-83+281C>T
ENST00000697717.1:c.3+281C>T	ENSP00000513415.1:n.3+281C>T
ENST00000697718.1:c.3+281C>T	ENSP00000513416.1:n.3+281C>T
ENST00000697719.1:c.-271C>T	ENSP00000513417.1:n.-271C>T
ENST00000697720.1:c.-429C>T	ENSP00000513418.1:n.-429C>T
ENST00000380842.5:c.3+281C>T MANE Select	ENSP00000370222.4:n.3+281C>T
ENST00000380842.4:c.3+281C>T	ENSP00000370222.4:n.3+281C>T
ENST00000460403.1:n.84+281C>T
NM_015932.5:c.3+281C>T	NP_057016.1:n.3+281C>T
XR_941802.1:n.274C>T
NM_015932.6:c.3+281C>T MANE Select	NP_057016.1:n.3+281C>T