Canonical Allele Identifier: CA2473076944
Gene: YARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1638576840
gnomAD v4: 1-32811168-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32811168C>A , CM000663.2:g.32811168C>A GRCh38
NC_000001.10:g.33276769C>A , CM000663.1:g.33276769C>A GRCh37
NC_000001.9:g.33049356C>A NCBI36
NG_008408.1:g.11865G>T , LRG_273:g.11865G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.58-402G>T ENSP00000502019.1:n.58-402G>T
ENST00000373477.9:c.58-111G>T MANE Select ENSP00000362576.4:n.58-111G>T
ENST00000481895.6:c.58-111G>T ENSP00000502016.1:n.58-111G>T
ENST00000616261.2:c.58-111G>T ENSP00000484192.2:n.58-111G>T
ENST00000674629.1:c.58-4557G>T ENSP00000502470.1:n.58-4557G>T
ENST00000674654.1:c.58-111G>T ENSP00000501729.1:n.58-111G>T
ENST00000675785.1:c.58-402G>T ENSP00000502019.1:n.58-402G>T
ENST00000676297.1:c.58-111G>T ENSP00000501596.1:n.58-111G>T
ENST00000373477.8:c.58-111G>T ENSP00000362576.4:n.58-111G>T
ENST00000472692.1:n.480G>T
ENST00000481895.5:n.131-111G>T
ENST00000616261.1:c.58-111G>T ENSP00000484192.1:n.58-111G>T
NM_003680.3:c.58-111G>T , LRG_273t1:c.58-111G>T NP_003671.1:n.58-111G>T
XM_011542347.1:c.-250-4557G>T XP_011540649.1:n.-250-4557G>T
XM_011542348.1:c.-297-4557G>T XP_011540650.1:n.-297-4557G>T
XM_011542347.2:c.-250-4557G>T XP_011540649.1:n.-250-4557G>T
XM_017002651.2:c.-620-111G>T XP_016858140.1:n.-620-111G>T
NM_003680.4:c.58-111G>T MANE Select NP_003671.1:n.58-111G>T