Canonical Allele Identifier: CA8177330

Gene: KARS1

Linked Data

• ClinVar Variation Id: 226679
• ClinVar RCV Id: RCV000223236 ; RCV004530270 ; RCV000957423
• dbSNP Id: rs77573084
• ExAC: 16:75665146 G / A
• gnomAD v2: 16-75665146-G-A
• gnomAD v3: 16-75631248-G-A
• gnomAD v4: 16-75631248-G-A
• MyVariant Identifiers: chr16:g.75665146G>A (hg19) ; chr16:g.75631248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631248G>A , CM000678.2:g.75631248G>A	GRCh38
NC_000016.9:g.75665146G>A , CM000678.1:g.75665146G>A	GRCh37
NC_000016.8:g.74222647G>A	NCBI36
NG_028025.1:g.21440C>T , LRG_366:g.21440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.1258C>T MANE Select	ENSP00000303043.3:p.Arg420Cys
ENST00000302445.7:c.1258C>T	ENSP00000303043.3:p.Arg420Cys
ENST00000319410.9:c.1342C>T	ENSP00000325448.5:p.Arg448Cys
ENST00000564578.5:c.*801C>T	ENSP00000455818.1:n.*801C>T
ENST00000568378.5:c.147-3259C>T	ENSP00000454512.1:n.147-3259C>T
NM_001130089.1:c.1342C>T , LRG_366t1:c.1342C>T	NP_001123561.1:p.Arg448Cys
NM_005548.2:c.1258C>T	NP_005539.1:p.Arg420Cys
XM_017023217.1:c.790C>T	XP_016878706.1:p.Arg264Cys
NM_001130089.2:c.1342C>T	NP_001123561.1:p.Arg448Cys
NM_001378148.1:c.790C>T	NP_001365077.1:p.Arg264Cys
NM_005548.3:c.1258C>T MANE Select	NP_005539.1:p.Arg420Cys