Canonical Allele Identifier: CA2838294948

Gene: PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31133503T>G , CM000668.2:g.31133503T>G	GRCh38
NC_000006.11:g.31101280T>G , CM000668.1:g.31101280T>G	GRCh37
NC_000006.10:g.31209259T>G	NCBI36
NG_021348.1:g.23673T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.13+3858T>G MANE Select	ENSP00000259881.9:n.13+3858T>G
ENST00000259881.9:c.13+3858T>G	ENSP00000259881.9:n.13+3858T>G
ENST00000479581.5:n.62-6138T>G
ENST00000548049.1:n.358-50T>G
ENST00000550838.1:n.160-4856T>G
ENST00000552747.1:n.54-4856T>G
NM_014068.2:c.13+3858T>G	NP_054787.2:n.13+3858T>G
NM_014068.3:c.13+3858T>G MANE Select	NP_054787.2:n.13+3858T>G