Canonical Allele Identifier: CA363323531

Gene: PSORS1C2 PSORS1C1

Linked Data

• MyVariant Identifiers: chr6:g.31106791A>C (hg19) ; chr6:g.31139014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139014A>C , CM000668.2:g.31139014A>C	GRCh38
NC_000006.11:g.31106791A>C , CM000668.1:g.31106791A>C	GRCh37
NC_000006.10:g.31214770A>C	NCBI36
NG_021348.1:g.29184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.13T>G (PSORS1C2) MANE Select	ENSP00000259845.4:p.Trp5Gly
ENST00000259881.10:c.167+235A>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+235A>C
ENST00000259845.4:c.13T>G (PSORS1C2)	ENSP00000259845.4:p.Trp5Gly
ENST00000259881.9:c.167+235A>C (PSORS1C1)	ENSP00000259881.9:n.167+235A>C
ENST00000479581.5:n.62-627A>C (PSORS1C1)
ENST00000481450.2:c.-23+555A>C (PSORS1C1)	ENSP00000447158.1:n.-23+555A>C
ENST00000547221.1:c.23+235A>C (PSORS1C1)	ENSP00000449471.1:n.23+235A>C
ENST00000552747.1:n.709A>C (PSORS1C1)
NM_014068.2:c.167+235A>C (PSORS1C1)	NP_054787.2:n.167+235A>C
NM_014069.2:c.13T>G (PSORS1C2)	NP_054788.2:p.Trp5Gly
NM_014069.3:c.13T>G (PSORS1C2) MANE Select	NP_054788.2:p.Trp5Gly
NM_014068.3:c.167+235A>C (PSORS1C1) MANE Select	NP_054787.2:n.167+235A>C