Canonical Allele Identifier: CA247677291

Gene: POMP

Linked Data

• dbSNP Id: rs530099379
• gnomAD v2: 13-29233579-A-C
• gnomAD v3: 13-28659442-A-C
• gnomAD v4: 13-28659442-A-C
• MyVariant Identifiers: chr13:g.29233579A>C (hg19) ; chr13:g.28659442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659442A>C , CM000675.2:g.28659442A>C	GRCh38
NC_000013.10:g.29233579A>C , CM000675.1:g.29233579A>C	GRCh37
NC_000013.9:g.28131579A>C	NCBI36
NG_027550.1:g.5439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+255A>C	ENSP00000513386.1:n.-246+255A>C
ENST00000697662.1:c.-282+255A>C	ENSP00000513387.1:n.-282+255A>C
ENST00000697716.1:c.-83+255A>C	ENSP00000513414.1:n.-83+255A>C
ENST00000697717.1:c.3+255A>C	ENSP00000513415.1:n.3+255A>C
ENST00000697718.1:c.3+255A>C	ENSP00000513416.1:n.3+255A>C
ENST00000697719.1:c.-297A>C	ENSP00000513417.1:n.-297A>C
ENST00000697720.1:c.-455A>C	ENSP00000513418.1:n.-455A>C
ENST00000380842.5:c.3+255A>C MANE Select	ENSP00000370222.4:n.3+255A>C
ENST00000380842.4:c.3+255A>C	ENSP00000370222.4:n.3+255A>C
ENST00000460403.1:n.84+255A>C
NM_015932.5:c.3+255A>C	NP_057016.1:n.3+255A>C
XR_941802.1:n.248A>C
NM_015932.6:c.3+255A>C MANE Select	NP_057016.1:n.3+255A>C