Canonical Allele Identifier: CA359371263

Gene: TARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33455691T>C , CM000667.2:g.33455691T>C	GRCh38
NC_000005.9:g.33455796T>C , CM000667.1:g.33455796T>C	GRCh37
NC_000005.8:g.33491553T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152295.5:c.680T>C MANE Select	NP_689508.3:p.Leu227Pro
ENST00000265112.8:c.680T>C MANE Select	ENSP00000265112.3:p.Leu227Pro
NM_001258437.1:c.680T>C	NP_001245366.1:p.Leu227Pro
NM_001258438.1:c.779T>C	NP_001245367.1:p.Leu260Pro
NM_001258438.2:c.779T>C	NP_001245367.1:p.Leu260Pro
NM_152295.4:c.680T>C	NP_689508.3:p.Leu227Pro
NR_047676.1:n.1112T>C
NR_047676.2:n.923T>C
NR_047677.1:n.830T>C
NR_047677.2:n.641T>C
NR_047678.1:n.800T>C
NR_047678.2:n.611T>C
ENST00000265112.7:c.680T>C	ENSP00000265112.3:p.Leu227Pro
ENST00000455217.6:c.779T>C	ENSP00000387710.2:p.Leu260Pro
ENST00000502553.5:c.680T>C	ENSP00000424387.1:p.Leu227Pro
ENST00000507716.5:c.*123T>C	ENSP00000420893.1:n.*123T>C
ENST00000508361.5:c.*318T>C	ENSP00000427627.1:n.*318T>C
ENST00000509731.5:c.*633T>C	ENSP00000427304.1:n.*633T>C