Canonical Allele Identifier: CA2770499592

Gene: PSORS1C1 PSORS1C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139127G>A , CM000668.2:g.31139127G>A	GRCh38
NC_000006.11:g.31106904G>A , CM000668.1:g.31106904G>A	GRCh37
NC_000006.10:g.31214883G>A	NCBI36
NG_021348.1:g.29297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+348G>A (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+348G>A
ENST00000259845.4:c.-101C>T (PSORS1C2)	ENSP00000259845.4:n.-101C>T
ENST00000259881.9:c.167+348G>A (PSORS1C1)	ENSP00000259881.9:n.167+348G>A
ENST00000479581.5:n.62-514G>A (PSORS1C1)
ENST00000481450.2:c.-22-514G>A (PSORS1C1)	ENSP00000447158.1:n.-22-514G>A
ENST00000547221.1:c.23+348G>A (PSORS1C1)	ENSP00000449471.1:n.23+348G>A
ENST00000552747.1:n.822G>A (PSORS1C1)
NM_014068.2:c.167+348G>A (PSORS1C1)	NP_054787.2:n.167+348G>A
NM_014069.2:c.-101C>T (PSORS1C2)	NP_054788.2:n.-101C>T
NM_014068.3:c.167+348G>A (PSORS1C1) MANE Select	NP_054787.2:n.167+348G>A