Canonical Allele Identifier: CA1619021205
Community Standard Title: NM_014068.3(PSORS1C1):c.43+32A=
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31138491A= , CM000668.2:g.31138491A= GRCh38
NC_000006.11:g.31106268A= , CM000668.1:g.31106268A= GRCh37
NC_000006.10:g.31214247A= NCBI36
NG_021348.1:g.28661A=

Transcript Alleles

HGVS Amino-acid Change
NM_014068.3:c.43+32A= (PSORS1C1) MANE Select NP_054787.2:n.43+32A=
NM_014069.3:c.56-185T= (PSORS1C2) MANE Select NP_054788.2:n.56-185T=
ENST00000259845.5:c.56-185T= (PSORS1C2) MANE Select ENSP00000259845.4:n.56-185T=
ENST00000259881.10:c.43+32A= (PSORS1C1) MANE Select ENSP00000259881.9:n.43+32A=
NM_014068.2:c.43+32A= (PSORS1C1) NP_054787.2:n.43+32A=
NM_014069.2:c.56-185T= (PSORS1C2) NP_054788.2:n.56-185T=
ENST00000259845.4:c.56-185T= (PSORS1C2) ENSP00000259845.4:n.56-185T=
ENST00000259881.9:c.43+32A= (PSORS1C1) ENSP00000259881.9:n.43+32A=
ENST00000479581.5:n.62-1150A= (PSORS1C1)
ENST00000481450.2:c.-23+32A= (PSORS1C1) ENSP00000447158.1:n.-23+32A=
ENST00000547221.1:c.-102+32A= (PSORS1C1) ENSP00000449471.1:n.-102+32A=
ENST00000550838.1:n.292A= (PSORS1C1)
ENST00000552747.1:n.186A= (PSORS1C1)