Canonical Allele Identifier: CA2770499716
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139529C>T , CM000668.2:g.31139529C>T GRCh38
NC_000006.11:g.31107306C>T , CM000668.1:g.31107306C>T GRCh37
NC_000006.10:g.31215285C>T NCBI36
NG_021348.1:g.29699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-112C>T MANE Select ENSP00000259881.9:n.168-112C>T
ENST00000259881.9:c.168-112C>T ENSP00000259881.9:n.168-112C>T
ENST00000479581.5:n.62-112C>T
ENST00000481450.2:c.-22-112C>T ENSP00000447158.1:n.-22-112C>T
ENST00000547221.1:c.24-112C>T ENSP00000449471.1:n.24-112C>T
NM_014068.2:c.168-112C>T NP_054787.2:n.168-112C>T
NM_014068.3:c.168-112C>T MANE Select NP_054787.2:n.168-112C>T