Canonical Allele Identifier: CA2677930612

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125685-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125685A>G , CM000668.2:g.31125685A>G	GRCh38
NC_000006.11:g.31093462A>G , CM000668.1:g.31093462A>G	GRCh37
NC_000006.10:g.31201441A>G	NCBI36
NG_021348.1:g.15855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-219A>G MANE Select	ENSP00000259881.9:n.-219A>G
ENST00000259881.9:c.-219A>G	ENSP00000259881.9:n.-219A>G
ENST00000479581.5:n.61+10794A>G
ENST00000548049.1:n.126A>G
ENST00000550838.1:n.59-54A>G
ENST00000552747.1:n.53+10794A>G
NM_014068.2:c.-219A>G	NP_054787.2:n.-219A>G
NM_014068.3:c.-219A>G MANE Select	NP_054787.2:n.-219A>G