Canonical Allele Identifier: CA136809051
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs892751317
gnomAD v4: 6-31125914-T-A
MyVariant Identifiers: chr6:g.31093691T>A (hg19) chr6:g.31125914T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125914T>A , CM000668.2:g.31125914T>A GRCh38
NC_000006.11:g.31093691T>A , CM000668.1:g.31093691T>A GRCh37
NC_000006.10:g.31201670T>A NCBI36
NG_021348.1:g.16084T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-65+75T>A MANE Select ENSP00000259881.9:n.-65+75T>A
ENST00000259881.9:c.-65+75T>A ENSP00000259881.9:n.-65+75T>A
ENST00000479581.5:n.61+11023T>A
ENST00000548049.1:n.280+75T>A
ENST00000550838.1:n.159+75T>A
ENST00000552747.1:n.53+11023T>A
NM_014068.2:c.-65+75T>A NP_054787.2:n.-65+75T>A
NM_014068.3:c.-65+75T>A MANE Select NP_054787.2:n.-65+75T>A
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