Canonical Allele Identifier: CA8177603

Gene: KARS1

Linked Data

• dbSNP Id: rs766884150
• ExAC: 16:75670316 A / G
• gnomAD v2: 16-75670316-A-G
• gnomAD v4: 16-75636418-A-G
• MyVariant Identifiers: chr16:g.75670316A>G (hg19) ; chr16:g.75636418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636418A>G , CM000678.2:g.75636418A>G	GRCh38
NC_000016.9:g.75670316A>G , CM000678.1:g.75670316A>G	GRCh37
NC_000016.8:g.74227817A>G	NCBI36
NG_028025.1:g.16270T>C , LRG_366:g.16270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.482+36T>C MANE Select	ENSP00000303043.3:n.482+36T>C
ENST00000302445.7:c.482+36T>C	ENSP00000303043.3:n.482+36T>C
ENST00000319410.9:c.566+36T>C	ENSP00000325448.5:n.566+36T>C
ENST00000562875.5:c.223-320T>C	ENSP00000456185.1:n.223-320T>C
ENST00000564578.5:c.*25+36T>C	ENSP00000455818.1:n.*25+36T>C
ENST00000566249.5:c.284+36T>C
ENST00000566560.5:n.596+36T>C
ENST00000568378.5:c.146+7865T>C	ENSP00000454512.1:n.146+7865T>C
ENST00000568682.5:c.14+36T>C	ENSP00000462057.1:n.14+36T>C
ENST00000570215.1:c.566+36T>C	ENSP00000458028.1:n.566+36T>C
NM_001130089.1:c.566+36T>C , LRG_366t1:c.566+36T>C	NP_001123561.1:n.566+36T>C
NM_005548.2:c.482+36T>C	NP_005539.1:n.482+36T>C
XM_017023217.1:c.14+36T>C	XP_016878706.1:n.14+36T>C
NM_001130089.2:c.566+36T>C	NP_001123561.1:n.566+36T>C
NM_001378148.1:c.14+36T>C	NP_001365077.1:n.14+36T>C
NM_005548.3:c.482+36T>C MANE Select	NP_005539.1:n.482+36T>C