Canonical Allele Identifier: CA609145024

Gene: POMP

Linked Data

• dbSNP Id: rs541166774
• gnomAD v2: 13-29233547-C-G
• gnomAD v3: 13-28659410-C-G
• gnomAD v4: 13-28659410-C-G
• MyVariant Identifiers: chr13:g.29233547C>G (hg19) ; chr13:g.28659410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659410C>G , CM000675.2:g.28659410C>G	GRCh38
NC_000013.10:g.29233547C>G , CM000675.1:g.29233547C>G	GRCh37
NC_000013.9:g.28131547C>G	NCBI36
NG_027550.1:g.5407C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+223C>G	ENSP00000513386.1:n.-246+223C>G
ENST00000697662.1:c.-282+223C>G	ENSP00000513387.1:n.-282+223C>G
ENST00000697716.1:c.-83+223C>G	ENSP00000513414.1:n.-83+223C>G
ENST00000697717.1:c.3+223C>G	ENSP00000513415.1:n.3+223C>G
ENST00000697718.1:c.3+223C>G	ENSP00000513416.1:n.3+223C>G
ENST00000697719.1:c.-329C>G	ENSP00000513417.1:n.-329C>G
ENST00000697720.1:c.-487C>G	ENSP00000513418.1:n.-487C>G
ENST00000380842.5:c.3+223C>G MANE Select	ENSP00000370222.4:n.3+223C>G
ENST00000380842.4:c.3+223C>G	ENSP00000370222.4:n.3+223C>G
ENST00000460403.1:n.84+223C>G
NM_015932.5:c.3+223C>G	NP_057016.1:n.3+223C>G
XR_941802.1:n.216C>G
NM_015932.6:c.3+223C>G MANE Select	NP_057016.1:n.3+223C>G