Canonical Allele Identifier: CA454246858

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612100-T-C
• MyVariant Identifiers: chr7:g.30651716T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612100T>C , CM000669.2:g.30612100T>C	GRCh38
NC_000007.13:g.30651716T>C , CM000669.1:g.30651716T>C	GRCh37
NC_000007.12:g.30618241T>C	NCBI36
NG_007942.1:g.22536T>C , LRG_243:g.22536T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.886T>C MANE Select	ENSP00000373918.3:p.Leu296=
ENST00000444666.6:c.886T>C	ENSP00000415447.2:p.Leu296=
ENST00000470392.2:n.976T>C
ENST00000478124.6:n.949T>C
ENST00000485784.2:n.965T>C
ENST00000674616.1:c.*600T>C	ENSP00000502408.1:n.*600T>C
ENST00000674643.1:c.886T>C	ENSP00000501636.1:p.Leu296=
ENST00000674734.1:n.1382T>C
ENST00000674737.1:c.*224T>C	ENSP00000502464.1:n.*224T>C
ENST00000674807.1:c.886T>C	ENSP00000502814.1:p.Leu296=
ENST00000674815.1:c.517T>C	ENSP00000502799.1:p.Leu173=
ENST00000674851.1:c.517T>C	ENSP00000502451.1:p.Leu173=
ENST00000674969.1:n.2759T>C
ENST00000675051.1:c.685T>C	ENSP00000502296.1:p.Leu229=
ENST00000675529.1:c.*756T>C	ENSP00000501655.1:n.*756T>C
ENST00000675587.1:n.902T>C
ENST00000675651.1:c.886T>C	ENSP00000502513.1:p.Leu296=
ENST00000675693.1:c.718T>C	ENSP00000502174.1:p.Leu240=
ENST00000675810.1:c.784T>C	ENSP00000502743.1:p.Leu262=
ENST00000675859.1:c.886T>C	ENSP00000502033.1:p.Leu296=
ENST00000675863.1:n.894T>C
ENST00000675886.1:n.6926T>C
ENST00000676088.1:c.*828T>C	ENSP00000501884.1:n.*828T>C
ENST00000676140.1:c.886T>C	ENSP00000502571.1:p.Leu296=
ENST00000676164.1:c.*337T>C	ENSP00000501986.1:n.*337T>C
ENST00000676210.1:c.*175T>C	ENSP00000502373.1:n.*175T>C
ENST00000676259.1:c.*318T>C	ENSP00000501980.1:n.*318T>C
ENST00000676403.1:c.886T>C	ENSP00000502681.1:p.Leu296=
ENST00000389266.7:c.886T>C	ENSP00000373918.3:p.Leu296=
ENST00000478124.5:n.924T>C
NM_001316772.1:c.724T>C	NP_001303701.1:p.Leu242=
NM_002047.2:c.886T>C , LRG_243t1:c.886T>C	NP_002038.2:p.Leu296=
NM_002047.3:c.886T>C	NP_002038.2:p.Leu296=
XM_006715686.1:c.517T>C	XP_006715749.1:p.Leu173=
XM_006715686.2:c.517T>C	XP_006715749.1:p.Leu173=
NM_002047.4:c.886T>C MANE Select	NP_002038.2:p.Leu296=