Canonical Allele Identifier: CA4205598

Gene: GARS1

Linked Data

• ClinVar Variation Id: 585899
• ClinVar RCV Id: RCV001089118 ; RCV000711738 ; RCV004026808
• dbSNP Id: rs754360926
• ExAC: 7:30634681 C / T
• gnomAD v2: 7-30634681-C-T
• gnomAD v3: 7-30595065-C-T
• gnomAD v4: 7-30595065-C-T
• MyVariant Identifiers: chr7:g.30634681C>T (hg19) ; chr7:g.30595065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595065C>T , CM000669.2:g.30595065C>T	GRCh38
NC_000007.13:g.30634681C>T , CM000669.1:g.30634681C>T	GRCh37
NC_000007.12:g.30601206C>T	NCBI36
NG_007942.1:g.5501C>T , LRG_243:g.5501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.144C>T MANE Select	ENSP00000373918.3:p.Ala48=
ENST00000444666.6:c.144C>T	ENSP00000415447.2:p.Ala48=
ENST00000454308.6:c.144C>T	ENSP00000392677.2:p.Ala48=
ENST00000470392.2:n.234C>T
ENST00000478124.6:n.207C>T
ENST00000485784.2:n.223C>T
ENST00000674616.1:c.144C>T	ENSP00000502408.1:p.Ala48=
ENST00000674643.1:c.144C>T	ENSP00000501636.1:p.Ala48=
ENST00000674737.1:c.144C>T	ENSP00000502464.1:p.Ala48=
ENST00000674807.1:c.144C>T	ENSP00000502814.1:p.Ala48=
ENST00000674815.1:c.-148+113C>T	ENSP00000502799.1:n.-148+113C>T
ENST00000674851.1:c.-183-43C>T	ENSP00000502451.1:n.-183-43C>T
ENST00000674969.1:n.184C>T
ENST00000675051.1:c.22-3731C>T	ENSP00000502296.1:n.22-3731C>T
ENST00000675529.1:c.144C>T	ENSP00000501655.1:p.Ala48=
ENST00000675587.1:n.160C>T
ENST00000675651.1:c.144C>T	ENSP00000502513.1:p.Ala48=
ENST00000675693.1:c.19-43C>T	ENSP00000502174.1:n.19-43C>T
ENST00000675810.1:c.144C>T	ENSP00000502743.1:p.Ala48=
ENST00000675859.1:c.144C>T	ENSP00000502033.1:p.Ala48=
ENST00000675863.1:n.152C>T
ENST00000675886.1:n.172C>T
ENST00000676088.1:c.144C>T	ENSP00000501884.1:p.Ala48=
ENST00000676140.1:c.144C>T	ENSP00000502571.1:p.Ala48=
ENST00000676164.1:c.144C>T	ENSP00000501986.1:p.Ala48=
ENST00000676210.1:c.144C>T	ENSP00000502373.1:p.Ala48=
ENST00000676259.1:c.144C>T	ENSP00000501980.1:p.Ala48=
ENST00000676403.1:c.144C>T	ENSP00000502681.1:p.Ala48=
ENST00000389266.7:c.144C>T	ENSP00000373918.3:p.Ala48=
ENST00000454308.5:c.144C>T	ENSP00000392677.1:p.Ala48=
ENST00000478124.5:n.182C>T
ENST00000627489.1:c.144C>T	ENSP00000485931.1:p.Ala48=
NM_001316772.1:c.-19C>T	NP_001303701.1:n.-19C>T
NM_002047.2:c.144C>T , LRG_243t1:c.144C>T	NP_002038.2:p.Ala48=
NM_002047.3:c.144C>T	NP_002038.2:p.Ala48=
XM_006715686.2:c.-336C>T	XP_006715749.1:n.-336C>T
NM_002047.4:c.144C>T MANE Select	NP_002038.2:p.Ala48=