Canonical Allele Identifier: CA609145025

Gene: POMP

Linked Data

• dbSNP Id: rs1346905263
• gnomAD v2: 13-29233581-C-G
• gnomAD v3: 13-28659444-C-G
• gnomAD v4: 13-28659444-C-G
• MyVariant Identifiers: chr13:g.29233581C>G (hg19) ; chr13:g.28659444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659444C>G , CM000675.2:g.28659444C>G	GRCh38
NC_000013.10:g.29233581C>G , CM000675.1:g.29233581C>G	GRCh37
NC_000013.9:g.28131581C>G	NCBI36
NG_027550.1:g.5441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+257C>G	ENSP00000513386.1:n.-246+257C>G
ENST00000697662.1:c.-282+257C>G	ENSP00000513387.1:n.-282+257C>G
ENST00000697716.1:c.-83+257C>G	ENSP00000513414.1:n.-83+257C>G
ENST00000697717.1:c.3+257C>G	ENSP00000513415.1:n.3+257C>G
ENST00000697718.1:c.3+257C>G	ENSP00000513416.1:n.3+257C>G
ENST00000697719.1:c.-295C>G	ENSP00000513417.1:n.-295C>G
ENST00000697720.1:c.-453C>G	ENSP00000513418.1:n.-453C>G
ENST00000380842.5:c.3+257C>G MANE Select	ENSP00000370222.4:n.3+257C>G
ENST00000380842.4:c.3+257C>G	ENSP00000370222.4:n.3+257C>G
ENST00000460403.1:n.84+257C>G
NM_015932.5:c.3+257C>G	NP_057016.1:n.3+257C>G
XR_941802.1:n.250C>G
NM_015932.6:c.3+257C>G MANE Select	NP_057016.1:n.3+257C>G