Canonical Allele Identifier: CA12426397
Gene: PSORS1C1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31139584C>A
GRCh37 chr6:g.31107361C>A
gnomAD v2:
6:31107361 C / A
gnomAD v3:
6:31139584 C / A
gnomAD v4:
chr6-31139584-C-A
Joint Max Group AF 0.16371783 (NFE)
Genomes Max Group AF 0.15685235 (AFR)
Exomes Max Group AF 0.16406437 (NFE)
dbSNP:
2233945
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139584C>A , CM000668.2:g.31139584C>A GRCh38
NC_000006.11:g.31107361C>A , CM000668.1:g.31107361C>A GRCh37
NC_000006.10:g.31215340C>A NCBI36
NG_021348.1:g.29754C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-57C>A MANE Select ENSP00000259881.9:n.168-57C>A
ENST00000259881.9:c.168-57C>A ENSP00000259881.9:n.168-57C>A
ENST00000479581.5:n.62-57C>A
ENST00000481450.2:c.-22-57C>A ENSP00000447158.1:n.-22-57C>A
ENST00000547221.1:c.24-57C>A ENSP00000449471.1:n.24-57C>A
NM_014068.2:c.168-57C>A NP_054787.2:n.168-57C>A
NM_014068.3:c.168-57C>A MANE Select NP_054787.2:n.168-57C>A
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