Canonical Allele Identifier: CA15778435

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28662209A>T , CM000675.2:g.28662209A>T	GRCh38
NC_000013.10:g.29236346A>T , CM000675.1:g.29236346A>T	GRCh37
NC_000013.9:g.28134346A>T	NCBI36
NG_027550.1:g.8206A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015932.6:c.4-201A>T MANE Select	NP_057016.1:n.4-201A>T
ENST00000380842.5:c.4-201A>T MANE Select	ENSP00000370222.4:n.4-201A>T
NM_015932.5:c.4-201A>T	NP_057016.1:n.4-201A>T
ENST00000380842.4:c.4-201A>T	ENSP00000370222.4:n.4-201A>T
ENST00000460403.1:n.183-201A>T
ENST00000697661.1:c.-180-201A>T	ENSP00000513386.1:n.-180-201A>T
ENST00000697662.1:c.-180-201A>T	ENSP00000513387.1:n.-180-201A>T
ENST00000697663.1:c.-180-201A>T	ENSP00000513388.1:n.-180-201A>T
ENST00000697716.1:c.-82-2300A>T	ENSP00000513414.1:n.-82-2300A>T
ENST00000697717.1:c.4-201A>T	ENSP00000513415.1:n.4-201A>T
ENST00000697718.1:c.4-201A>T	ENSP00000513416.1:n.4-201A>T
ENST00000697719.1:c.-180-201A>T	ENSP00000513417.1:n.-180-201A>T
ENST00000697720.1:c.-180-201A>T	ENSP00000513418.1:n.-180-201A>T
ENST00000697721.1:c.-180-201A>T	ENSP00000513419.1:n.-180-201A>T
XR_941800.1:n.3701-1228T>A