Canonical Allele Identifier: CA12292450
Gene: PSORS1C1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31139410G>A
GRCh37 chr6:g.31107187G>A
gnomAD v2:
6:31107187 G / A
gnomAD v3:
6:31139410 G / A
gnomAD v4:
chr6-31139410-G-A
Joint Max Group AF 0.33968802 (EAS)
Genomes Max Group AF 0.32858506 (EAS)
Exomes Max Group AF 0.33975959 (EAS)
dbSNP:
1265093
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139410G>A , CM000668.2:g.31139410G>A GRCh38
NC_000006.11:g.31107187G>A , CM000668.1:g.31107187G>A GRCh37
NC_000006.10:g.31215166G>A NCBI36
NG_021348.1:g.29580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-231G>A MANE Select ENSP00000259881.9:n.168-231G>A
ENST00000259881.9:c.168-231G>A ENSP00000259881.9:n.168-231G>A
ENST00000479581.5:n.62-231G>A
ENST00000481450.2:c.-22-231G>A ENSP00000447158.1:n.-22-231G>A
ENST00000547221.1:c.24-231G>A ENSP00000449471.1:n.24-231G>A
ENST00000552747.1:n.1105G>A
NM_014068.2:c.168-231G>A NP_054787.2:n.168-231G>A
NM_014068.3:c.168-231G>A MANE Select NP_054787.2:n.168-231G>A
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