Canonical Allele Identifier: CA247677288

Gene: POMP

Linked Data

• dbSNP Id: rs755212932
• gnomAD v2: 13-29233573-C-T
• gnomAD v3: 13-28659436-C-T
• gnomAD v4: 13-28659436-C-T
• MyVariant Identifiers: chr13:g.29233573C>T (hg19) ; chr13:g.28659436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659436C>T , CM000675.2:g.28659436C>T	GRCh38
NC_000013.10:g.29233573C>T , CM000675.1:g.29233573C>T	GRCh37
NC_000013.9:g.28131573C>T	NCBI36
NG_027550.1:g.5433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+249C>T	ENSP00000513386.1:n.-246+249C>T
ENST00000697662.1:c.-282+249C>T	ENSP00000513387.1:n.-282+249C>T
ENST00000697716.1:c.-83+249C>T	ENSP00000513414.1:n.-83+249C>T
ENST00000697717.1:c.3+249C>T	ENSP00000513415.1:n.3+249C>T
ENST00000697718.1:c.3+249C>T	ENSP00000513416.1:n.3+249C>T
ENST00000697719.1:c.-303C>T	ENSP00000513417.1:n.-303C>T
ENST00000697720.1:c.-461C>T	ENSP00000513418.1:n.-461C>T
ENST00000380842.5:c.3+249C>T MANE Select	ENSP00000370222.4:n.3+249C>T
ENST00000380842.4:c.3+249C>T	ENSP00000370222.4:n.3+249C>T
ENST00000460403.1:n.84+249C>T
NM_015932.5:c.3+249C>T	NP_057016.1:n.3+249C>T
XR_941802.1:n.242C>T
NM_015932.6:c.3+249C>T MANE Select	NP_057016.1:n.3+249C>T