Canonical Allele Identifier: CA339687709
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32810996C>A , CM000663.2:g.32810996C>A GRCh38
NC_000001.10:g.33276597C>A , CM000663.1:g.33276597C>A GRCh37
NC_000001.9:g.33049184C>A NCBI36
NG_008408.1:g.12037G>T , LRG_273:g.12037G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000675785.2:c.58-230G>T ENSP00000502019.1:n.58-230G>T
ENST00000373477.9:c.119G>T MANE Select ENSP00000362576.4:p.Trp40Leu
ENST00000481895.6:c.119G>T ENSP00000502016.1:p.Trp40Leu
ENST00000616261.2:c.119G>T ENSP00000484192.2:p.Trp40Leu
ENST00000674629.1:c.58-4385G>T ENSP00000502470.1:n.58-4385G>T
ENST00000674654.1:c.119G>T ENSP00000501729.1:p.Trp40Leu
ENST00000675785.1:c.58-230G>T ENSP00000502019.1:n.58-230G>T
ENST00000676297.1:c.119G>T ENSP00000501596.1:p.Trp40Leu
ENST00000373477.8:c.119G>T ENSP00000362576.4:p.Trp40Leu
ENST00000472692.1:n.652G>T
ENST00000481895.5:n.192G>T
ENST00000616261.1:c.119G>T ENSP00000484192.1:p.Trp40Leu
NM_003680.3:c.119G>T , LRG_273t1:c.119G>T NP_003671.1:p.Trp40Leu
XM_011542347.1:c.-250-4385G>T XP_011540649.1:n.-250-4385G>T
XM_011542348.1:c.-297-4385G>T XP_011540650.1:n.-297-4385G>T
XM_011542347.2:c.-250-4385G>T XP_011540649.1:n.-250-4385G>T
XM_017002651.2:c.-559G>T XP_016858140.1:n.-559G>T
NM_003680.4:c.119G>T MANE Select NP_003671.1:p.Trp40Leu