Canonical Allele Identifier: CA339685093

Gene: YARS1

Linked Data

• gnomAD v4: 1-32786965-C-A
• MyVariant Identifiers: chr1:g.33252566C>A (hg19) ; chr1:g.32786965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32786965C>A , CM000663.2:g.32786965C>A	GRCh38
NC_000001.10:g.33252566C>A , CM000663.1:g.33252566C>A	GRCh37
NC_000001.9:g.33025153C>A	NCBI36
NG_008408.1:g.36068G>T , LRG_273:g.36068G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.648G>T	ENSP00000502019.1:p.Lys216Asn
ENST00000373477.9:c.795G>T MANE Select	ENSP00000362576.4:p.Lys265Asn
ENST00000481895.6:c.*870G>T	ENSP00000502016.1:n.*870G>T
ENST00000616261.2:c.*164G>T	ENSP00000484192.2:n.*164G>T
ENST00000674629.1:c.*343G>T	ENSP00000502470.1:n.*343G>T
ENST00000674654.1:c.*263G>T	ENSP00000501729.1:n.*263G>T
ENST00000675785.1:c.648G>T	ENSP00000502019.1:p.Lys216Asn
ENST00000676297.1:c.*477G>T	ENSP00000501596.1:n.*477G>T
ENST00000373477.8:c.795G>T	ENSP00000362576.4:p.Lys265Asn
ENST00000466052.1:n.703G>T
ENST00000481895.5:n.915G>T
ENST00000616261.1:c.795G>T	ENSP00000484192.1:p.Lys265Asn
NM_003680.3:c.795G>T , LRG_273t1:c.795G>T	NP_003671.1:p.Lys265Asn
XM_011542347.1:c.165G>T	XP_011540649.1:p.Lys55Asn
XM_011542348.1:c.165G>T	XP_011540650.1:p.Lys55Asn
XM_011542347.2:c.165G>T	XP_011540649.1:p.Lys55Asn
XM_017002651.2:c.165G>T	XP_016858140.1:p.Lys55Asn
NM_003680.4:c.795G>T MANE Select	NP_003671.1:p.Lys265Asn