Canonical Allele Identifier: CA2644702486

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780030-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780030C>T , CM000663.2:g.32780030C>T	GRCh38
NC_000001.10:g.33245631C>T , CM000663.1:g.33245631C>T	GRCh37
NC_000001.9:g.33018218C>T	NCBI36
NG_008408.1:g.43003G>A , LRG_273:g.43003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1187+55G>A	ENSP00000502019.1:n.1187+55G>A
ENST00000373477.9:c.1334+55G>A MANE Select	ENSP00000362576.4:n.1334+55G>A
ENST00000674629.1:c.*882+55G>A	ENSP00000502470.1:n.*882+55G>A
ENST00000674654.1:c.*1294+55G>A	ENSP00000501729.1:n.*1294+55G>A
ENST00000675785.1:c.1187+55G>A	ENSP00000502019.1:n.1187+55G>A
ENST00000676297.1:c.*1508+55G>A	ENSP00000501596.1:n.*1508+55G>A
ENST00000373477.8:c.1334+55G>A	ENSP00000362576.4:n.1334+55G>A
ENST00000469100.5:n.1250+55G>A
ENST00000478828.1:n.801+55G>A
ENST00000487404.5:n.1644+55G>A
ENST00000490826.1:n.682G>A
NM_003680.3:c.1334+55G>A , LRG_273t1:c.1334+55G>A	NP_003671.1:n.1334+55G>A
XM_011542347.1:c.704+55G>A	XP_011540649.1:n.704+55G>A
XM_011542348.1:c.704+55G>A	XP_011540650.1:n.704+55G>A
XM_011542347.2:c.704+55G>A	XP_011540649.1:n.704+55G>A
XM_017002651.2:c.704+55G>A	XP_016858140.1:n.704+55G>A
NM_003680.4:c.1334+55G>A MANE Select	NP_003671.1:n.1334+55G>A