Canonical Allele Identifier: CA4206014

Gene: GARS1

Linked Data

• dbSNP Id: rs754355347
• ExAC: 7:30665806 G / T
• gnomAD v2: 7-30665806-G-T
• gnomAD v3: 7-30626190-G-T
• gnomAD v4: 7-30626190-G-T
• MyVariant Identifiers: chr7:g.30665806G>T (hg19) ; chr7:g.30626190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626190G>T , CM000669.2:g.30626190G>T	GRCh38
NC_000007.13:g.30665806G>T , CM000669.1:g.30665806G>T	GRCh37
NC_000007.12:g.30632331G>T	NCBI36
NG_007942.1:g.36626G>T , LRG_243:g.36626G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1614-44G>T MANE Select	ENSP00000373918.3:n.1614-44G>T
ENST00000444666.6:c.1614-44G>T	ENSP00000415447.2:n.1614-44G>T
ENST00000470392.2:n.1704-44G>T
ENST00000485784.2:n.1693-44G>T
ENST00000674616.1:c.*1328-44G>T	ENSP00000502408.1:n.*1328-44G>T
ENST00000674643.1:c.*714-44G>T	ENSP00000501636.1:n.*714-44G>T
ENST00000674737.1:c.*952-44G>T	ENSP00000502464.1:n.*952-44G>T
ENST00000674807.1:c.1614-2370G>T	ENSP00000502814.1:n.1614-2370G>T
ENST00000674815.1:c.1245-44G>T	ENSP00000502799.1:n.1245-44G>T
ENST00000674851.1:c.1245-44G>T	ENSP00000502451.1:n.1245-44G>T
ENST00000674969.1:n.3487-44G>T
ENST00000675051.1:c.1413-44G>T	ENSP00000502296.1:n.1413-44G>T
ENST00000675529.1:c.*1484-44G>T	ENSP00000501655.1:n.*1484-44G>T
ENST00000675587.1:n.2446-44G>T
ENST00000675651.1:c.1614-44G>T	ENSP00000502513.1:n.1614-44G>T
ENST00000675693.1:c.1446-44G>T	ENSP00000502174.1:n.1446-44G>T
ENST00000675810.1:c.1512-44G>T	ENSP00000502743.1:n.1512-44G>T
ENST00000675859.1:c.1614-2370G>T	ENSP00000502033.1:n.1614-2370G>T
ENST00000675863.1:n.1622-44G>T
ENST00000675886.1:n.7654-44G>T
ENST00000676088.1:c.*1556-44G>T	ENSP00000501884.1:n.*1556-44G>T
ENST00000676140.1:c.*559-44G>T	ENSP00000502571.1:n.*559-44G>T
ENST00000676164.1:c.*1065-44G>T	ENSP00000501986.1:n.*1065-44G>T
ENST00000676210.1:c.*903-44G>T	ENSP00000502373.1:n.*903-44G>T
ENST00000676259.1:c.*1046-44G>T	ENSP00000501980.1:n.*1046-44G>T
ENST00000676403.1:c.1614-44G>T	ENSP00000502681.1:n.1614-44G>T
ENST00000389266.7:c.1614-44G>T	ENSP00000373918.3:n.1614-44G>T
ENST00000444666.5:c.135-44G>T	ENSP00000415447.1:n.135-44G>T
ENST00000470392.1:n.336-44G>T
NM_001316772.1:c.1452-44G>T	NP_001303701.1:n.1452-44G>T
NM_002047.2:c.1614-44G>T , LRG_243t1:c.1614-44G>T	NP_002038.2:n.1614-44G>T
NM_002047.3:c.1614-44G>T	NP_002038.2:n.1614-44G>T
XM_006715686.1:c.1245-44G>T	XP_006715749.1:n.1245-44G>T
XM_006715686.2:c.1245-44G>T	XP_006715749.1:n.1245-44G>T
NM_002047.4:c.1614-44G>T MANE Select	NP_002038.2:n.1614-44G>T