Canonical Allele Identifier: CA3708817

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs141827754
• ExAC: 6:31106797 G / A
• gnomAD v2: 6-31106797-G-A
• gnomAD v3: 6-31139020-G-A
• gnomAD v4: 6-31139020-G-A
• MyVariant Identifiers: chr6:g.31106797G>A (hg19) ; chr6:g.31139020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139020G>A , CM000668.2:g.31139020G>A	GRCh38
NC_000006.11:g.31106797G>A , CM000668.1:g.31106797G>A	GRCh37
NC_000006.10:g.31214776G>A	NCBI36
NG_021348.1:g.29190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.7C>T (PSORS1C2) MANE Select	ENSP00000259845.4:p.Leu3Phe
ENST00000259881.10:c.167+241G>A (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+241G>A
ENST00000259845.4:c.7C>T (PSORS1C2)	ENSP00000259845.4:p.Leu3Phe
ENST00000259881.9:c.167+241G>A (PSORS1C1)	ENSP00000259881.9:n.167+241G>A
ENST00000479581.5:n.62-621G>A (PSORS1C1)
ENST00000481450.2:c.-23+561G>A (PSORS1C1)	ENSP00000447158.1:n.-23+561G>A
ENST00000547221.1:c.23+241G>A (PSORS1C1)	ENSP00000449471.1:n.23+241G>A
ENST00000552747.1:n.715G>A (PSORS1C1)
NM_014068.2:c.167+241G>A (PSORS1C1)	NP_054787.2:n.167+241G>A
NM_014069.2:c.7C>T (PSORS1C2)	NP_054788.2:p.Leu3Phe
NM_014069.3:c.7C>T (PSORS1C2) MANE Select	NP_054788.2:p.Leu3Phe
NM_014068.3:c.167+241G>A (PSORS1C1) MANE Select	NP_054787.2:n.167+241G>A