Canonical Allele Identifier: CA2677932900
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139482-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139482T>A , CM000668.2:g.31139482T>A GRCh38
NC_000006.11:g.31107259T>A , CM000668.1:g.31107259T>A GRCh37
NC_000006.10:g.31215238T>A NCBI36
NG_021348.1:g.29652T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-159T>A MANE Select ENSP00000259881.9:n.168-159T>A
ENST00000259881.9:c.168-159T>A ENSP00000259881.9:n.168-159T>A
ENST00000479581.5:n.62-159T>A
ENST00000481450.2:c.-22-159T>A ENSP00000447158.1:n.-22-159T>A
ENST00000547221.1:c.24-159T>A ENSP00000449471.1:n.24-159T>A
NM_014068.2:c.168-159T>A NP_054787.2:n.168-159T>A
NM_014068.3:c.168-159T>A MANE Select NP_054787.2:n.168-159T>A