Canonical Allele Identifier: CA396811409

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631178A>G , CM000678.2:g.75631178A>G	GRCh38
NC_000016.9:g.75665076A>G , CM000678.1:g.75665076A>G	GRCh37
NC_000016.8:g.74222577A>G	NCBI36
NG_028025.1:g.21510T>C , LRG_366:g.21510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.1328T>C MANE Select	ENSP00000303043.3:p.Leu443Pro
ENST00000302445.7:c.1328T>C	ENSP00000303043.3:p.Leu443Pro
ENST00000319410.9:c.1412T>C	ENSP00000325448.5:p.Leu471Pro
ENST00000564578.5:c.*871T>C	ENSP00000455818.1:n.*871T>C
ENST00000568378.5:c.147-3189T>C	ENSP00000454512.1:n.147-3189T>C
NM_001130089.1:c.1412T>C , LRG_366t1:c.1412T>C	NP_001123561.1:p.Leu471Pro
NM_005548.2:c.1328T>C	NP_005539.1:p.Leu443Pro
XM_017023217.1:c.860T>C	XP_016878706.1:p.Leu287Pro
NM_001130089.2:c.1412T>C	NP_001123561.1:p.Leu471Pro
NM_001378148.1:c.860T>C	NP_001365077.1:p.Leu287Pro
NM_005548.3:c.1328T>C MANE Select	NP_005539.1:p.Leu443Pro