Canonical Allele Identifier: CA3708816

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs148095595
• ExAC: 6:31106793 T / C
• gnomAD v2: 6-31106793-T-C
• gnomAD v3: 6-31139016-T-C
• gnomAD v4: 6-31139016-T-C
• MyVariant Identifiers: chr6:g.31106793T>C (hg19) ; chr6:g.31139016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139016T>C , CM000668.2:g.31139016T>C	GRCh38
NC_000006.11:g.31106793T>C , CM000668.1:g.31106793T>C	GRCh37
NC_000006.10:g.31214772T>C	NCBI36
NG_021348.1:g.29186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.11A>G (PSORS1C2) MANE Select	ENSP00000259845.4:p.Asn4Ser
ENST00000259881.10:c.167+237T>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+237T>C
ENST00000259845.4:c.11A>G (PSORS1C2)	ENSP00000259845.4:p.Asn4Ser
ENST00000259881.9:c.167+237T>C (PSORS1C1)	ENSP00000259881.9:n.167+237T>C
ENST00000479581.5:n.62-625T>C (PSORS1C1)
ENST00000481450.2:c.-23+557T>C (PSORS1C1)	ENSP00000447158.1:n.-23+557T>C
ENST00000547221.1:c.23+237T>C (PSORS1C1)	ENSP00000449471.1:n.23+237T>C
ENST00000552747.1:n.711T>C (PSORS1C1)
NM_014068.2:c.167+237T>C (PSORS1C1)	NP_054787.2:n.167+237T>C
NM_014069.2:c.11A>G (PSORS1C2)	NP_054788.2:p.Asn4Ser
NM_014069.3:c.11A>G (PSORS1C2) MANE Select	NP_054788.2:p.Asn4Ser
NM_014068.3:c.167+237T>C (PSORS1C1) MANE Select	NP_054787.2:n.167+237T>C