Canonical Allele Identifier: CA136818332

Gene: PSORS1C1 PSORS1C2

Linked Data

• dbSNP Id: rs753721979
• gnomAD v3: 6-31139080-C-T
• gnomAD v4: 6-31139080-C-T
• MyVariant Identifiers: chr6:g.31106857C>T (hg19) ; chr6:g.31139080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139080C>T , CM000668.2:g.31139080C>T	GRCh38
NC_000006.11:g.31106857C>T , CM000668.1:g.31106857C>T	GRCh37
NC_000006.10:g.31214836C>T	NCBI36
NG_021348.1:g.29250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+301C>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+301C>T
ENST00000259845.4:c.-54G>A (PSORS1C2)	ENSP00000259845.4:n.-54G>A
ENST00000259881.9:c.167+301C>T (PSORS1C1)	ENSP00000259881.9:n.167+301C>T
ENST00000479581.5:n.62-561C>T (PSORS1C1)
ENST00000481450.2:c.-22-561C>T (PSORS1C1)	ENSP00000447158.1:n.-22-561C>T
ENST00000547221.1:c.23+301C>T (PSORS1C1)	ENSP00000449471.1:n.23+301C>T
ENST00000552747.1:n.775C>T (PSORS1C1)
NM_014068.2:c.167+301C>T (PSORS1C1)	NP_054787.2:n.167+301C>T
NM_014069.2:c.-54G>A (PSORS1C2)	NP_054788.2:n.-54G>A
NM_014068.3:c.167+301C>T (PSORS1C1) MANE Select	NP_054787.2:n.167+301C>T