Canonical Allele Identifier: CA2677932685

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31139382-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139382T>G , CM000668.2:g.31139382T>G	GRCh38
NC_000006.11:g.31107159T>G , CM000668.1:g.31107159T>G	GRCh37
NC_000006.10:g.31215138T>G	NCBI36
NG_021348.1:g.29552T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259881.10:c.168-259T>G MANE Select	ENSP00000259881.9:n.168-259T>G
ENST00000259881.9:c.168-259T>G	ENSP00000259881.9:n.168-259T>G
ENST00000479581.5:n.62-259T>G
ENST00000481450.2:c.-22-259T>G	ENSP00000447158.1:n.-22-259T>G
ENST00000547221.1:c.24-259T>G	ENSP00000449471.1:n.24-259T>G
ENST00000552747.1:n.1077T>G
NM_014068.2:c.168-259T>G	NP_054787.2:n.168-259T>G
NM_014068.3:c.168-259T>G MANE Select	NP_054787.2:n.168-259T>G