Canonical Allele Identifier: CA367124529

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649297T>C (hg19) ; chr7:g.30609681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609681T>C , CM000669.2:g.30609681T>C	GRCh38
NC_000007.13:g.30649297T>C , CM000669.1:g.30649297T>C	GRCh37
NC_000007.12:g.30615822T>C	NCBI36
NG_007942.1:g.20117T>C , LRG_243:g.20117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.832T>C MANE Select	ENSP00000373918.3:p.Phe278Leu
ENST00000444666.6:c.832T>C	ENSP00000415447.2:p.Phe278Leu
ENST00000470392.2:n.922T>C
ENST00000478124.6:n.895T>C
ENST00000485784.2:n.911T>C
ENST00000674616.1:c.*546T>C	ENSP00000502408.1:n.*546T>C
ENST00000674643.1:c.832T>C	ENSP00000501636.1:p.Phe278Leu
ENST00000674734.1:n.1328T>C
ENST00000674737.1:c.*170T>C	ENSP00000502464.1:n.*170T>C
ENST00000674807.1:c.832T>C	ENSP00000502814.1:p.Phe278Leu
ENST00000674815.1:c.463T>C	ENSP00000502799.1:p.Phe155Leu
ENST00000674851.1:c.463T>C	ENSP00000502451.1:p.Phe155Leu
ENST00000674969.1:n.2705T>C
ENST00000675051.1:c.631T>C	ENSP00000502296.1:p.Phe211Leu
ENST00000675529.1:c.*702T>C	ENSP00000501655.1:n.*702T>C
ENST00000675587.1:n.848T>C
ENST00000675651.1:c.832T>C	ENSP00000502513.1:p.Phe278Leu
ENST00000675693.1:c.664T>C	ENSP00000502174.1:p.Phe222Leu
ENST00000675810.1:c.730T>C	ENSP00000502743.1:p.Phe244Leu
ENST00000675859.1:c.832T>C	ENSP00000502033.1:p.Phe278Leu
ENST00000675863.1:n.840T>C
ENST00000675886.1:n.6872T>C
ENST00000676088.1:c.*774T>C	ENSP00000501884.1:n.*774T>C
ENST00000676140.1:c.832T>C	ENSP00000502571.1:p.Phe278Leu
ENST00000676164.1:c.*283T>C	ENSP00000501986.1:n.*283T>C
ENST00000676210.1:c.*121T>C	ENSP00000502373.1:n.*121T>C
ENST00000676259.1:c.*264T>C	ENSP00000501980.1:n.*264T>C
ENST00000676403.1:c.832T>C	ENSP00000502681.1:p.Phe278Leu
ENST00000389266.7:c.832T>C	ENSP00000373918.3:p.Phe278Leu
ENST00000478124.5:n.870T>C
NM_001316772.1:c.670T>C	NP_001303701.1:p.Phe224Leu
NM_002047.2:c.832T>C , LRG_243t1:c.832T>C	NP_002038.2:p.Phe278Leu
NM_002047.3:c.832T>C	NP_002038.2:p.Phe278Leu
XM_006715686.1:c.463T>C	XP_006715749.1:p.Phe155Leu
XM_006715686.2:c.463T>C	XP_006715749.1:p.Phe155Leu
NM_002047.4:c.832T>C MANE Select	NP_002038.2:p.Phe278Leu