Canonical Allele Identifier: CA8177389

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631596G>A , CM000678.2:g.75631596G>A	GRCh38
NC_000016.9:g.75665494G>A , CM000678.1:g.75665494G>A	GRCh37
NC_000016.8:g.74222995G>A	NCBI36
NG_028025.1:g.21092C>T , LRG_366:g.21092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.1079-7C>T MANE Select	ENSP00000303043.3:n.1079-7C>T
ENST00000302445.7:c.1079-7C>T	ENSP00000303043.3:n.1079-7C>T
ENST00000319410.9:c.1163-7C>T	ENSP00000325448.5:n.1163-7C>T
ENST00000564578.5:c.*622-7C>T	ENSP00000455818.1:n.*622-7C>T
ENST00000568378.5:c.147-3607C>T	ENSP00000454512.1:n.147-3607C>T
NM_001130089.1:c.1163-7C>T , LRG_366t1:c.1163-7C>T	NP_001123561.1:n.1163-7C>T
NM_005548.2:c.1079-7C>T	NP_005539.1:n.1079-7C>T
XM_017023217.1:c.611-7C>T	XP_016878706.1:n.611-7C>T
NM_001130089.2:c.1163-7C>T	NP_001123561.1:n.1163-7C>T
NM_001378148.1:c.611-7C>T	NP_001365077.1:n.611-7C>T
NM_005548.3:c.1079-7C>T MANE Select	NP_005539.1:n.1079-7C>T