Canonical Allele Identifier: CA2677932437

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139282-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139282A>C , CM000668.2:g.31139282A>C	GRCh38
NC_000006.11:g.31107059A>C , CM000668.1:g.31107059A>C	GRCh37
NC_000006.10:g.31215038A>C	NCBI36
NG_021348.1:g.29452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.168-359A>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.168-359A>C
ENST00000259845.4:c.-256T>G (PSORS1C2)	ENSP00000259845.4:n.-256T>G
ENST00000259881.9:c.168-359A>C (PSORS1C1)	ENSP00000259881.9:n.168-359A>C
ENST00000479581.5:n.62-359A>C (PSORS1C1)
ENST00000481450.2:c.-22-359A>C (PSORS1C1)	ENSP00000447158.1:n.-22-359A>C
ENST00000547221.1:c.24-359A>C (PSORS1C1)	ENSP00000449471.1:n.24-359A>C
ENST00000552747.1:n.977A>C (PSORS1C1)
NM_014068.2:c.168-359A>C (PSORS1C1)	NP_054787.2:n.168-359A>C
NM_014069.2:c.-256T>G (PSORS1C2)	NP_054788.2:n.-256T>G
NM_014068.3:c.168-359A>C (PSORS1C1) MANE Select	NP_054787.2:n.168-359A>C