Canonical Allele Identifier: CA2644702493

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780064-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780064C>G , CM000663.2:g.32780064C>G	GRCh38
NC_000001.10:g.33245665C>G , CM000663.1:g.33245665C>G	GRCh37
NC_000001.9:g.33018252C>G	NCBI36
NG_008408.1:g.42969G>C , LRG_273:g.42969G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.1187+21G>C	ENSP00000502019.1:n.1187+21G>C
ENST00000373477.9:c.1334+21G>C MANE Select	ENSP00000362576.4:n.1334+21G>C
ENST00000674629.1:c.*882+21G>C	ENSP00000502470.1:n.*882+21G>C
ENST00000674654.1:c.*1294+21G>C	ENSP00000501729.1:n.*1294+21G>C
ENST00000675785.1:c.1187+21G>C	ENSP00000502019.1:n.1187+21G>C
ENST00000676297.1:c.*1508+21G>C	ENSP00000501596.1:n.*1508+21G>C
ENST00000373477.8:c.1334+21G>C	ENSP00000362576.4:n.1334+21G>C
ENST00000469100.5:n.1250+21G>C
ENST00000478828.1:n.801+21G>C
ENST00000487404.5:n.1644+21G>C
ENST00000490826.1:n.648G>C
NM_003680.3:c.1334+21G>C , LRG_273t1:c.1334+21G>C	NP_003671.1:n.1334+21G>C
XM_011542347.1:c.704+21G>C	XP_011540649.1:n.704+21G>C
XM_011542348.1:c.704+21G>C	XP_011540650.1:n.704+21G>C
XM_011542347.2:c.704+21G>C	XP_011540649.1:n.704+21G>C
XM_017002651.2:c.704+21G>C	XP_016858140.1:n.704+21G>C
NM_003680.4:c.1334+21G>C MANE Select	NP_003671.1:n.1334+21G>C