Canonical Allele Identifier: CA339473947

Gene: C1orf122 YRDC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37807930G>A , CM000663.2:g.37807930G>A	GRCh38
NC_000001.10:g.38273602G>A , CM000663.1:g.38273602G>A	GRCh37
NC_000001.9:g.38046189G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024640.4:c.251C>T (YRDC) MANE Select	NP_078916.3:p.Ala84Val
NM_198446.3:c.-475G>A (C1orf122) MANE Select	NP_940848.2:n.-475G>A
ENST00000373042.5:c.-475G>A (C1orf122) MANE Select	ENSP00000362133.4:n.-475G>A
ENST00000373044.3:c.251C>T (YRDC) MANE Select	ENSP00000362135.2:p.Ala84Val
NM_001142726.1:c.-531G>A (C1orf122)	NP_001136198.1:n.-531G>A
NM_001142726.2:c.-531G>A (C1orf122)	NP_001136198.1:n.-531G>A
NM_024640.3:c.251C>T (YRDC)	NP_078916.3:p.Ala84Val
NM_198446.2:c.-475G>A (C1orf122)	NP_940848.2:n.-475G>A
ENST00000373043.1:c.-755G>A (C1orf122)	ENSP00000362134.1:n.-755G>A
ENST00000373044.2:c.251C>T (YRDC)	ENSP00000362135.2:p.Ala84Val
ENST00000419397.3:n.21+250G>A (C1orf122)
ENST00000468084.1:c.-531G>A (C1orf122)	ENSP00000434520.1:n.-531G>A