Canonical Allele Identifier: CA745209
Community Standard Title: NM_003680.4(YARS1):c.381-6C>T
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32806617G>A , CM000663.2:g.32806617G>A GRCh38
NC_000001.10:g.33272218G>A , CM000663.1:g.33272218G>A GRCh37
NC_000001.9:g.33044805G>A NCBI36
NG_008408.1:g.16416C>T , LRG_273:g.16416C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.381-6C>T MANE Select NP_003671.1:n.381-6C>T
ENST00000373477.9:c.381-6C>T MANE Select ENSP00000362576.4:n.381-6C>T
NM_003680.3:c.381-6C>T , LRG_273t1:c.381-6C>T NP_003671.1:n.381-6C>T
ENST00000373477.8:c.381-6C>T ENSP00000362576.4:n.381-6C>T
ENST00000481895.5:n.454-6C>T
ENST00000481895.6:c.381-6C>T ENSP00000502016.1:n.381-6C>T
ENST00000616261.1:c.381-6C>T ENSP00000484192.1:n.381-6C>T
ENST00000616261.2:c.381-6C>T ENSP00000484192.2:n.381-6C>T
ENST00000674629.1:c.58-6C>T ENSP00000502470.1:n.58-6C>T
ENST00000674654.1:c.380+3974C>T ENSP00000501729.1:n.380+3974C>T
ENST00000675785.1:c.234-6C>T ENSP00000502019.1:n.234-6C>T
ENST00000675785.2:c.234-6C>T ENSP00000502019.1:n.234-6C>T
ENST00000676297.1:c.381-6C>T ENSP00000501596.1:n.381-6C>T
XM_011542347.1:c.-250-6C>T XP_011540649.1:n.-250-6C>T
XM_011542347.2:c.-250-6C>T XP_011540649.1:n.-250-6C>T
XM_011542348.1:c.-297-6C>T XP_011540650.1:n.-297-6C>T
XM_017002651.2:c.-297-6C>T XP_016858140.1:n.-297-6C>T