Canonical Allele Identifier: CA454247062

Gene: GARS1

Linked Data

• dbSNP Id: rs1443380634
• gnomAD v2: 7-30651808-T-C
• gnomAD v4: 7-30612192-T-C
• MyVariant Identifiers: chr7:g.30651808T>C (hg19) ; chr7:g.30612192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612192T>C , CM000669.2:g.30612192T>C	GRCh38
NC_000007.13:g.30651808T>C , CM000669.1:g.30651808T>C	GRCh37
NC_000007.12:g.30618333T>C	NCBI36
NG_007942.1:g.22628T>C , LRG_243:g.22628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.978T>C MANE Select	ENSP00000373918.3:p.Ile326=
ENST00000444666.6:c.978T>C	ENSP00000415447.2:p.Ile326=
ENST00000470392.2:n.1068T>C
ENST00000478124.6:n.1041T>C
ENST00000485784.2:n.1057T>C
ENST00000674616.1:c.*692T>C	ENSP00000502408.1:n.*692T>C
ENST00000674643.1:c.978T>C	ENSP00000501636.1:p.Ile326=
ENST00000674734.1:n.1474T>C
ENST00000674737.1:c.*316T>C	ENSP00000502464.1:n.*316T>C
ENST00000674807.1:c.978T>C	ENSP00000502814.1:p.Ile326=
ENST00000674815.1:c.609T>C	ENSP00000502799.1:p.Ile203=
ENST00000674851.1:c.609T>C	ENSP00000502451.1:p.Ile203=
ENST00000674969.1:n.2851T>C
ENST00000675051.1:c.777T>C	ENSP00000502296.1:p.Ile259=
ENST00000675529.1:c.*848T>C	ENSP00000501655.1:n.*848T>C
ENST00000675587.1:n.994T>C
ENST00000675651.1:c.978T>C	ENSP00000502513.1:p.Ile326=
ENST00000675693.1:c.810T>C	ENSP00000502174.1:p.Ile270=
ENST00000675810.1:c.876T>C	ENSP00000502743.1:p.Ile292=
ENST00000675859.1:c.978T>C	ENSP00000502033.1:p.Ile326=
ENST00000675863.1:n.986T>C
ENST00000675886.1:n.7018T>C
ENST00000676088.1:c.*920T>C	ENSP00000501884.1:n.*920T>C
ENST00000676140.1:c.978T>C	ENSP00000502571.1:p.Ile326=
ENST00000676164.1:c.*429T>C	ENSP00000501986.1:n.*429T>C
ENST00000676210.1:c.*267T>C	ENSP00000502373.1:n.*267T>C
ENST00000676259.1:c.*410T>C	ENSP00000501980.1:n.*410T>C
ENST00000676403.1:c.978T>C	ENSP00000502681.1:p.Ile326=
ENST00000389266.7:c.978T>C	ENSP00000373918.3:p.Ile326=
ENST00000478124.5:n.1016T>C
NM_001316772.1:c.816T>C	NP_001303701.1:p.Ile272=
NM_002047.2:c.978T>C , LRG_243t1:c.978T>C	NP_002038.2:p.Ile326=
NM_002047.3:c.978T>C	NP_002038.2:p.Ile326=
XM_006715686.1:c.609T>C	XP_006715749.1:p.Ile203=
XM_006715686.2:c.609T>C	XP_006715749.1:p.Ile203=
NM_002047.4:c.978T>C MANE Select	NP_002038.2:p.Ile326=