Canonical Allele Identifier: CA144651

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631726C>T , CM000678.2:g.75631726C>T	GRCh38
NC_000016.9:g.75665624C>T , CM000678.1:g.75665624C>T	GRCh37
NC_000016.8:g.74223125C>T	NCBI36
NG_028025.1:g.20962G>A , LRG_366:g.20962G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005548.3:c.1045G>A MANE Select	NP_005539.1:p.Asp349Asn
ENST00000302445.8:c.1045G>A MANE Select	ENSP00000303043.3:p.Asp349Asn
NM_001130089.1:c.1129G>A , LRG_366t1:c.1129G>A	NP_001123561.1:p.Asp377Asn
NM_001130089.2:c.1129G>A	NP_001123561.1:p.Asp377Asn
NM_001378148.1:c.577G>A	NP_001365077.1:p.Asp193Asn
NM_005548.2:c.1045G>A	NP_005539.1:p.Asp349Asn
ENST00000302445.7:c.1045G>A	ENSP00000303043.3:p.Asp349Asn
ENST00000319410.9:c.1129G>A	ENSP00000325448.5:p.Asp377Asn
ENST00000562875.5:c.*554G>A	ENSP00000456185.1:n.*554G>A
ENST00000564578.5:c.*588G>A	ENSP00000455818.1:n.*588G>A
ENST00000568378.5:c.147-3737G>A	ENSP00000454512.1:n.147-3737G>A
XM_017023217.1:c.577G>A	XP_016878706.1:p.Asp193Asn