Canonical Allele Identifier: CA454246783

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649233T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609617T>C , CM000669.2:g.30609617T>C	GRCh38
NC_000007.13:g.30649233T>C , CM000669.1:g.30649233T>C	GRCh37
NC_000007.12:g.30615758T>C	NCBI36
NG_007942.1:g.20053T>C , LRG_243:g.20053T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.768T>C MANE Select	ENSP00000373918.3:p.Asp256=
ENST00000444666.6:c.768T>C	ENSP00000415447.2:p.Asp256=
ENST00000470392.2:n.858T>C
ENST00000478124.6:n.831T>C
ENST00000485784.2:n.847T>C
ENST00000674616.1:c.*482T>C	ENSP00000502408.1:n.*482T>C
ENST00000674643.1:c.768T>C	ENSP00000501636.1:p.Asp256=
ENST00000674734.1:n.1264T>C
ENST00000674737.1:c.*106T>C	ENSP00000502464.1:n.*106T>C
ENST00000674807.1:c.768T>C	ENSP00000502814.1:p.Asp256=
ENST00000674815.1:c.399T>C	ENSP00000502799.1:p.Asp133=
ENST00000674851.1:c.399T>C	ENSP00000502451.1:p.Asp133=
ENST00000674969.1:n.2641T>C
ENST00000675051.1:c.567T>C	ENSP00000502296.1:p.Asp189=
ENST00000675529.1:c.*638T>C	ENSP00000501655.1:n.*638T>C
ENST00000675587.1:n.784T>C
ENST00000675651.1:c.768T>C	ENSP00000502513.1:p.Asp256=
ENST00000675693.1:c.600T>C	ENSP00000502174.1:p.Asp200=
ENST00000675810.1:c.666T>C	ENSP00000502743.1:p.Asp222=
ENST00000675859.1:c.768T>C	ENSP00000502033.1:p.Asp256=
ENST00000675863.1:n.776T>C
ENST00000675886.1:n.6808T>C
ENST00000676088.1:c.*710T>C	ENSP00000501884.1:n.*710T>C
ENST00000676140.1:c.768T>C	ENSP00000502571.1:p.Asp256=
ENST00000676164.1:c.*219T>C	ENSP00000501986.1:n.*219T>C
ENST00000676210.1:c.*57T>C	ENSP00000502373.1:n.*57T>C
ENST00000676259.1:c.*200T>C	ENSP00000501980.1:n.*200T>C
ENST00000676403.1:c.768T>C	ENSP00000502681.1:p.Asp256=
ENST00000389266.7:c.768T>C	ENSP00000373918.3:p.Asp256=
ENST00000478124.5:n.806T>C
NM_001316772.1:c.606T>C	NP_001303701.1:p.Asp202=
NM_002047.2:c.768T>C , LRG_243t1:c.768T>C	NP_002038.2:p.Asp256=
NM_002047.3:c.768T>C	NP_002038.2:p.Asp256=
XM_006715686.1:c.399T>C	XP_006715749.1:p.Asp133=
XM_006715686.2:c.399T>C	XP_006715749.1:p.Asp133=
NM_002047.4:c.768T>C MANE Select	NP_002038.2:p.Asp256=