Canonical Allele Identifier: CA12292451
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1265092
gnomAD v2: 6-31107317-C-T
gnomAD v3: 6-31139540-C-T
gnomAD v4: 6-31139540-C-T
MyVariant Identifiers: chr6:g.31107317C>T (hg19) chr6:g.31139540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139540C>T , CM000668.2:g.31139540C>T GRCh38
NC_000006.11:g.31107317C>T , CM000668.1:g.31107317C>T GRCh37
NC_000006.10:g.31215296C>T NCBI36
NG_021348.1:g.29710C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-101C>T MANE Select ENSP00000259881.9:n.168-101C>T
ENST00000259881.9:c.168-101C>T ENSP00000259881.9:n.168-101C>T
ENST00000479581.5:n.62-101C>T
ENST00000481450.2:c.-22-101C>T ENSP00000447158.1:n.-22-101C>T
ENST00000547221.1:c.24-101C>T ENSP00000449471.1:n.24-101C>T
NM_014068.2:c.168-101C>T NP_054787.2:n.168-101C>T
NM_014068.3:c.168-101C>T MANE Select NP_054787.2:n.168-101C>T
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