Canonical Allele Identifier: CA454246827

Gene: GARS1

Linked Data

• ClinVar Variation Id: 2963265
• ClinVar RCV Id: RCV003822919
• dbSNP Id: rs1190006892
• gnomAD v2: 7-30649303-T-C
• gnomAD v3: 7-30609687-T-C
• gnomAD v4: 7-30609687-T-C
• MyVariant Identifiers: chr7:g.30649303T>C (hg19) ; chr7:g.30609687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609687T>C , CM000669.2:g.30609687T>C	GRCh38
NC_000007.13:g.30649303T>C , CM000669.1:g.30649303T>C	GRCh37
NC_000007.12:g.30615828T>C	NCBI36
NG_007942.1:g.20123T>C , LRG_243:g.20123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.838T>C MANE Select	ENSP00000373918.3:p.Leu280=
ENST00000444666.6:c.838T>C	ENSP00000415447.2:p.Leu280=
ENST00000470392.2:n.928T>C
ENST00000478124.6:n.901T>C
ENST00000485784.2:n.917T>C
ENST00000674616.1:c.*552T>C	ENSP00000502408.1:n.*552T>C
ENST00000674643.1:c.838T>C	ENSP00000501636.1:p.Leu280=
ENST00000674734.1:n.1334T>C
ENST00000674737.1:c.*176T>C	ENSP00000502464.1:n.*176T>C
ENST00000674807.1:c.838T>C	ENSP00000502814.1:p.Leu280=
ENST00000674815.1:c.469T>C	ENSP00000502799.1:p.Leu157=
ENST00000674851.1:c.469T>C	ENSP00000502451.1:p.Leu157=
ENST00000674969.1:n.2711T>C
ENST00000675051.1:c.637T>C	ENSP00000502296.1:p.Leu213=
ENST00000675529.1:c.*708T>C	ENSP00000501655.1:n.*708T>C
ENST00000675587.1:n.854T>C
ENST00000675651.1:c.838T>C	ENSP00000502513.1:p.Leu280=
ENST00000675693.1:c.670T>C	ENSP00000502174.1:p.Leu224=
ENST00000675810.1:c.736T>C	ENSP00000502743.1:p.Leu246=
ENST00000675859.1:c.838T>C	ENSP00000502033.1:p.Leu280=
ENST00000675863.1:n.846T>C
ENST00000675886.1:n.6878T>C
ENST00000676088.1:c.*780T>C	ENSP00000501884.1:n.*780T>C
ENST00000676140.1:c.838T>C	ENSP00000502571.1:p.Leu280=
ENST00000676164.1:c.*289T>C	ENSP00000501986.1:n.*289T>C
ENST00000676210.1:c.*127T>C	ENSP00000502373.1:n.*127T>C
ENST00000676259.1:c.*270T>C	ENSP00000501980.1:n.*270T>C
ENST00000676403.1:c.838T>C	ENSP00000502681.1:p.Leu280=
ENST00000389266.7:c.838T>C	ENSP00000373918.3:p.Leu280=
ENST00000478124.5:n.876T>C
NM_001316772.1:c.676T>C	NP_001303701.1:p.Leu226=
NM_002047.2:c.838T>C , LRG_243t1:c.838T>C	NP_002038.2:p.Leu280=
NM_002047.3:c.838T>C	NP_002038.2:p.Leu280=
XM_006715686.1:c.469T>C	XP_006715749.1:p.Leu157=
XM_006715686.2:c.469T>C	XP_006715749.1:p.Leu157=
NM_002047.4:c.838T>C MANE Select	NP_002038.2:p.Leu280=