Canonical Allele Identifier: CA247677270

Gene: POMP

Linked Data

• dbSNP Id: rs552853976
• gnomAD v3: 13-28659315-T-C
• gnomAD v4: 13-28659315-T-C
• MyVariant Identifiers: chr13:g.29233452T>C (hg19) ; chr13:g.28659315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659315T>C , CM000675.2:g.28659315T>C	GRCh38
NC_000013.10:g.29233452T>C , CM000675.1:g.29233452T>C	GRCh37
NC_000013.9:g.28131452T>C	NCBI36
NG_027550.1:g.5312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+128T>C	ENSP00000513386.1:n.-246+128T>C
ENST00000697662.1:c.-282+128T>C	ENSP00000513387.1:n.-282+128T>C
ENST00000697716.1:c.-83+128T>C	ENSP00000513414.1:n.-83+128T>C
ENST00000697717.1:c.3+128T>C	ENSP00000513415.1:n.3+128T>C
ENST00000697718.1:c.3+128T>C	ENSP00000513416.1:n.3+128T>C
ENST00000380842.5:c.3+128T>C MANE Select	ENSP00000370222.4:n.3+128T>C
ENST00000380842.4:c.3+128T>C	ENSP00000370222.4:n.3+128T>C
ENST00000460403.1:n.84+128T>C
NM_015932.5:c.3+128T>C	NP_057016.1:n.3+128T>C
XR_941802.1:n.121T>C
NM_015932.6:c.3+128T>C MANE Select	NP_057016.1:n.3+128T>C