Canonical Allele Identifier: CA823833780

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs1194420098
• gnomAD v3: 6-31139059-C-T
• gnomAD v4: 6-31139059-C-T
• MyVariant Identifiers: chr6:g.31106836C>T (hg19) ; chr6:g.31139059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139059C>T , CM000668.2:g.31139059C>T	GRCh38
NC_000006.11:g.31106836C>T , CM000668.1:g.31106836C>T	GRCh37
NC_000006.10:g.31214815C>T	NCBI36
NG_021348.1:g.29229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-33G>A (PSORS1C2) MANE Select	ENSP00000259845.4:n.-33G>A
ENST00000259881.10:c.167+280C>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+280C>T
ENST00000259845.4:c.-33G>A (PSORS1C2)	ENSP00000259845.4:n.-33G>A
ENST00000259881.9:c.167+280C>T (PSORS1C1)	ENSP00000259881.9:n.167+280C>T
ENST00000479581.5:n.62-582C>T (PSORS1C1)
ENST00000481450.2:c.-22-582C>T (PSORS1C1)	ENSP00000447158.1:n.-22-582C>T
ENST00000547221.1:c.23+280C>T (PSORS1C1)	ENSP00000449471.1:n.23+280C>T
ENST00000552747.1:n.754C>T (PSORS1C1)
NM_014068.2:c.167+280C>T (PSORS1C1)	NP_054787.2:n.167+280C>T
NM_014069.2:c.-33G>A (PSORS1C2)	NP_054788.2:n.-33G>A
NM_014069.3:c.-33G>A (PSORS1C2) MANE Select	NP_054788.2:n.-33G>A
NM_014068.3:c.167+280C>T (PSORS1C1) MANE Select	NP_054787.2:n.167+280C>T