Canonical Allele Identifier: CA2677930878
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125833-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125833A>G , CM000668.2:g.31125833A>G GRCh38
NC_000006.11:g.31093610A>G , CM000668.1:g.31093610A>G GRCh37
NC_000006.10:g.31201589A>G NCBI36
NG_021348.1:g.16003A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-71A>G MANE Select ENSP00000259881.9:n.-71A>G
ENST00000259881.9:c.-71A>G ENSP00000259881.9:n.-71A>G
ENST00000479581.5:n.61+10942A>G
ENST00000548049.1:n.274A>G
ENST00000550838.1:n.153A>G
ENST00000552747.1:n.53+10942A>G
NM_014068.2:c.-71A>G NP_054787.2:n.-71A>G
NM_014068.3:c.-71A>G MANE Select NP_054787.2:n.-71A>G