Canonical Allele Identifier: CA2682251025

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626186-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626186C>T , CM000669.2:g.30626186C>T	GRCh38
NC_000007.13:g.30665802C>T , CM000669.1:g.30665802C>T	GRCh37
NC_000007.12:g.30632327C>T	NCBI36
NG_007942.1:g.36622C>T , LRG_243:g.36622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1614-48C>T MANE Select	ENSP00000373918.3:n.1614-48C>T
ENST00000444666.6:c.1614-48C>T	ENSP00000415447.2:n.1614-48C>T
ENST00000470392.2:n.1704-48C>T
ENST00000485784.2:n.1693-48C>T
ENST00000674616.1:c.*1328-48C>T	ENSP00000502408.1:n.*1328-48C>T
ENST00000674643.1:c.*714-48C>T	ENSP00000501636.1:n.*714-48C>T
ENST00000674737.1:c.*952-48C>T	ENSP00000502464.1:n.*952-48C>T
ENST00000674807.1:c.1614-2374C>T	ENSP00000502814.1:n.1614-2374C>T
ENST00000674815.1:c.1245-48C>T	ENSP00000502799.1:n.1245-48C>T
ENST00000674851.1:c.1245-48C>T	ENSP00000502451.1:n.1245-48C>T
ENST00000674969.1:n.3487-48C>T
ENST00000675051.1:c.1413-48C>T	ENSP00000502296.1:n.1413-48C>T
ENST00000675529.1:c.*1484-48C>T	ENSP00000501655.1:n.*1484-48C>T
ENST00000675587.1:n.2446-48C>T
ENST00000675651.1:c.1614-48C>T	ENSP00000502513.1:n.1614-48C>T
ENST00000675693.1:c.1446-48C>T	ENSP00000502174.1:n.1446-48C>T
ENST00000675810.1:c.1512-48C>T	ENSP00000502743.1:n.1512-48C>T
ENST00000675859.1:c.1614-2374C>T	ENSP00000502033.1:n.1614-2374C>T
ENST00000675863.1:n.1622-48C>T
ENST00000675886.1:n.7654-48C>T
ENST00000676088.1:c.*1556-48C>T	ENSP00000501884.1:n.*1556-48C>T
ENST00000676140.1:c.*559-48C>T	ENSP00000502571.1:n.*559-48C>T
ENST00000676164.1:c.*1065-48C>T	ENSP00000501986.1:n.*1065-48C>T
ENST00000676210.1:c.*903-48C>T	ENSP00000502373.1:n.*903-48C>T
ENST00000676259.1:c.*1046-48C>T	ENSP00000501980.1:n.*1046-48C>T
ENST00000676403.1:c.1614-48C>T	ENSP00000502681.1:n.1614-48C>T
ENST00000389266.7:c.1614-48C>T	ENSP00000373918.3:n.1614-48C>T
ENST00000444666.5:c.135-48C>T	ENSP00000415447.1:n.135-48C>T
ENST00000470392.1:n.336-48C>T
NM_001316772.1:c.1452-48C>T	NP_001303701.1:n.1452-48C>T
NM_002047.2:c.1614-48C>T , LRG_243t1:c.1614-48C>T	NP_002038.2:n.1614-48C>T
NM_002047.3:c.1614-48C>T	NP_002038.2:n.1614-48C>T
XM_006715686.1:c.1245-48C>T	XP_006715749.1:n.1245-48C>T
XM_006715686.2:c.1245-48C>T	XP_006715749.1:n.1245-48C>T
NM_002047.4:c.1614-48C>T MANE Select	NP_002038.2:n.1614-48C>T