Canonical Allele Identifier: CA367124512

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649292T>C (hg19) ; chr7:g.30609676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609676T>C , CM000669.2:g.30609676T>C	GRCh38
NC_000007.13:g.30649292T>C , CM000669.1:g.30649292T>C	GRCh37
NC_000007.12:g.30615817T>C	NCBI36
NG_007942.1:g.20112T>C , LRG_243:g.20112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.827T>C MANE Select	ENSP00000373918.3:p.Val276Ala
ENST00000444666.6:c.827T>C	ENSP00000415447.2:p.Val276Ala
ENST00000470392.2:n.917T>C
ENST00000478124.6:n.890T>C
ENST00000485784.2:n.906T>C
ENST00000674616.1:c.*541T>C	ENSP00000502408.1:n.*541T>C
ENST00000674643.1:c.827T>C	ENSP00000501636.1:p.Val276Ala
ENST00000674734.1:n.1323T>C
ENST00000674737.1:c.*165T>C	ENSP00000502464.1:n.*165T>C
ENST00000674807.1:c.827T>C	ENSP00000502814.1:p.Val276Ala
ENST00000674815.1:c.458T>C	ENSP00000502799.1:p.Val153Ala
ENST00000674851.1:c.458T>C	ENSP00000502451.1:p.Val153Ala
ENST00000674969.1:n.2700T>C
ENST00000675051.1:c.626T>C	ENSP00000502296.1:p.Val209Ala
ENST00000675529.1:c.*697T>C	ENSP00000501655.1:n.*697T>C
ENST00000675587.1:n.843T>C
ENST00000675651.1:c.827T>C	ENSP00000502513.1:p.Val276Ala
ENST00000675693.1:c.659T>C	ENSP00000502174.1:p.Val220Ala
ENST00000675810.1:c.725T>C	ENSP00000502743.1:p.Val242Ala
ENST00000675859.1:c.827T>C	ENSP00000502033.1:p.Val276Ala
ENST00000675863.1:n.835T>C
ENST00000675886.1:n.6867T>C
ENST00000676088.1:c.*769T>C	ENSP00000501884.1:n.*769T>C
ENST00000676140.1:c.827T>C	ENSP00000502571.1:p.Val276Ala
ENST00000676164.1:c.*278T>C	ENSP00000501986.1:n.*278T>C
ENST00000676210.1:c.*116T>C	ENSP00000502373.1:n.*116T>C
ENST00000676259.1:c.*259T>C	ENSP00000501980.1:n.*259T>C
ENST00000676403.1:c.827T>C	ENSP00000502681.1:p.Val276Ala
ENST00000389266.7:c.827T>C	ENSP00000373918.3:p.Val276Ala
ENST00000478124.5:n.865T>C
NM_001316772.1:c.665T>C	NP_001303701.1:p.Val222Ala
NM_002047.2:c.827T>C , LRG_243t1:c.827T>C	NP_002038.2:p.Val276Ala
NM_002047.3:c.827T>C	NP_002038.2:p.Val276Ala
XM_006715686.1:c.458T>C	XP_006715749.1:p.Val153Ala
XM_006715686.2:c.458T>C	XP_006715749.1:p.Val153Ala
NM_002047.4:c.827T>C MANE Select	NP_002038.2:p.Val276Ala