Canonical Allele Identifier: CA2677932663

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31139353-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139353A>G , CM000668.2:g.31139353A>G	GRCh38
NC_000006.11:g.31107130A>G , CM000668.1:g.31107130A>G	GRCh37
NC_000006.10:g.31215109A>G	NCBI36
NG_021348.1:g.29523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.168-288A>G MANE Select	ENSP00000259881.9:n.168-288A>G
ENST00000259881.9:c.168-288A>G	ENSP00000259881.9:n.168-288A>G
ENST00000479581.5:n.62-288A>G
ENST00000481450.2:c.-22-288A>G	ENSP00000447158.1:n.-22-288A>G
ENST00000547221.1:c.24-288A>G	ENSP00000449471.1:n.24-288A>G
ENST00000552747.1:n.1048A>G
NM_014068.2:c.168-288A>G	NP_054787.2:n.168-288A>G
NM_014068.3:c.168-288A>G MANE Select	NP_054787.2:n.168-288A>G