Canonical Allele Identifier: CA136818494
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs763378142
gnomAD v4: 6-31139554-G-A
MyVariant Identifiers: chr6:g.31107331G>A (hg19) chr6:g.31139554G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139554G>A , CM000668.2:g.31139554G>A GRCh38
NC_000006.11:g.31107331G>A , CM000668.1:g.31107331G>A GRCh37
NC_000006.10:g.31215310G>A NCBI36
NG_021348.1:g.29724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-87G>A MANE Select ENSP00000259881.9:n.168-87G>A
ENST00000259881.9:c.168-87G>A ENSP00000259881.9:n.168-87G>A
ENST00000479581.5:n.62-87G>A
ENST00000481450.2:c.-22-87G>A ENSP00000447158.1:n.-22-87G>A
ENST00000547221.1:c.24-87G>A ENSP00000449471.1:n.24-87G>A
NM_014068.2:c.168-87G>A NP_054787.2:n.168-87G>A
NM_014068.3:c.168-87G>A MANE Select NP_054787.2:n.168-87G>A
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