Canonical Allele Identifier: CA367124911

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651743T>C (hg19) ; chr7:g.30612127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612127T>C , CM000669.2:g.30612127T>C	GRCh38
NC_000007.13:g.30651743T>C , CM000669.1:g.30651743T>C	GRCh37
NC_000007.12:g.30618268T>C	NCBI36
NG_007942.1:g.22563T>C , LRG_243:g.22563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.913T>C MANE Select	ENSP00000373918.3:p.Phe305Leu
ENST00000444666.6:c.913T>C	ENSP00000415447.2:p.Phe305Leu
ENST00000470392.2:n.1003T>C
ENST00000478124.6:n.976T>C
ENST00000485784.2:n.992T>C
ENST00000674616.1:c.*627T>C	ENSP00000502408.1:n.*627T>C
ENST00000674643.1:c.913T>C	ENSP00000501636.1:p.Phe305Leu
ENST00000674734.1:n.1409T>C
ENST00000674737.1:c.*251T>C	ENSP00000502464.1:n.*251T>C
ENST00000674807.1:c.913T>C	ENSP00000502814.1:p.Phe305Leu
ENST00000674815.1:c.544T>C	ENSP00000502799.1:p.Phe182Leu
ENST00000674851.1:c.544T>C	ENSP00000502451.1:p.Phe182Leu
ENST00000674969.1:n.2786T>C
ENST00000675051.1:c.712T>C	ENSP00000502296.1:p.Phe238Leu
ENST00000675529.1:c.*783T>C	ENSP00000501655.1:n.*783T>C
ENST00000675587.1:n.929T>C
ENST00000675651.1:c.913T>C	ENSP00000502513.1:p.Phe305Leu
ENST00000675693.1:c.745T>C	ENSP00000502174.1:p.Phe249Leu
ENST00000675810.1:c.811T>C	ENSP00000502743.1:p.Phe271Leu
ENST00000675859.1:c.913T>C	ENSP00000502033.1:p.Phe305Leu
ENST00000675863.1:n.921T>C
ENST00000675886.1:n.6953T>C
ENST00000676088.1:c.*855T>C	ENSP00000501884.1:n.*855T>C
ENST00000676140.1:c.913T>C	ENSP00000502571.1:p.Phe305Leu
ENST00000676164.1:c.*364T>C	ENSP00000501986.1:n.*364T>C
ENST00000676210.1:c.*202T>C	ENSP00000502373.1:n.*202T>C
ENST00000676259.1:c.*345T>C	ENSP00000501980.1:n.*345T>C
ENST00000676403.1:c.913T>C	ENSP00000502681.1:p.Phe305Leu
ENST00000389266.7:c.913T>C	ENSP00000373918.3:p.Phe305Leu
ENST00000478124.5:n.951T>C
NM_001316772.1:c.751T>C	NP_001303701.1:p.Phe251Leu
NM_002047.2:c.913T>C , LRG_243t1:c.913T>C	NP_002038.2:p.Phe305Leu
NM_002047.3:c.913T>C	NP_002038.2:p.Phe305Leu
XM_006715686.1:c.544T>C	XP_006715749.1:p.Phe182Leu
XM_006715686.2:c.544T>C	XP_006715749.1:p.Phe182Leu
NM_002047.4:c.913T>C MANE Select	NP_002038.2:p.Phe305Leu