Canonical Allele Identifier: CA2682250276

Gene: GARS1

Linked Data

• gnomAD v4: 7-30621548-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621548C>A , CM000669.2:g.30621548C>A	GRCh38
NC_000007.13:g.30661164C>A , CM000669.1:g.30661164C>A	GRCh37
NC_000007.12:g.30627689C>A	NCBI36
NG_007942.1:g.31984C>A , LRG_243:g.31984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1467+48C>A MANE Select	ENSP00000373918.3:n.1467+48C>A
ENST00000444666.6:c.1467+48C>A	ENSP00000415447.2:n.1467+48C>A
ENST00000470392.2:n.1557+48C>A
ENST00000478124.6:n.1530+48C>A
ENST00000485784.2:n.1546+48C>A
ENST00000674616.1:c.*1181+48C>A	ENSP00000502408.1:n.*1181+48C>A
ENST00000674643.1:c.*567+48C>A	ENSP00000501636.1:n.*567+48C>A
ENST00000674734.1:n.2011C>A
ENST00000674737.1:c.*805+48C>A	ENSP00000502464.1:n.*805+48C>A
ENST00000674807.1:c.1467+48C>A	ENSP00000502814.1:n.1467+48C>A
ENST00000674815.1:c.1098+48C>A	ENSP00000502799.1:n.1098+48C>A
ENST00000674851.1:c.1098+48C>A	ENSP00000502451.1:n.1098+48C>A
ENST00000674969.1:n.3340+48C>A
ENST00000675051.1:c.1266+48C>A	ENSP00000502296.1:n.1266+48C>A
ENST00000675529.1:c.*1337+48C>A	ENSP00000501655.1:n.*1337+48C>A
ENST00000675587.1:n.1531C>A
ENST00000675651.1:c.1467+48C>A	ENSP00000502513.1:n.1467+48C>A
ENST00000675693.1:c.1299+48C>A	ENSP00000502174.1:n.1299+48C>A
ENST00000675810.1:c.1365+48C>A	ENSP00000502743.1:n.1365+48C>A
ENST00000675859.1:c.1467+48C>A	ENSP00000502033.1:n.1467+48C>A
ENST00000675863.1:n.1475+48C>A
ENST00000675886.1:n.7507+48C>A
ENST00000676088.1:c.*1409+48C>A	ENSP00000501884.1:n.*1409+48C>A
ENST00000676140.1:c.*412+48C>A	ENSP00000502571.1:n.*412+48C>A
ENST00000676164.1:c.*918+48C>A	ENSP00000501986.1:n.*918+48C>A
ENST00000676210.1:c.*756+48C>A	ENSP00000502373.1:n.*756+48C>A
ENST00000676259.1:c.*899+48C>A	ENSP00000501980.1:n.*899+48C>A
ENST00000676403.1:c.1467+48C>A	ENSP00000502681.1:n.1467+48C>A
ENST00000389266.7:c.1467+48C>A	ENSP00000373918.3:n.1467+48C>A
ENST00000478124.5:n.1505+48C>A
ENST00000484093.1:n.514C>A
NM_001316772.1:c.1305+48C>A	NP_001303701.1:n.1305+48C>A
NM_002047.2:c.1467+48C>A , LRG_243t1:c.1467+48C>A	NP_002038.2:n.1467+48C>A
NM_002047.3:c.1467+48C>A	NP_002038.2:n.1467+48C>A
XM_006715686.1:c.1098+48C>A	XP_006715749.1:n.1098+48C>A
XM_006715686.2:c.1098+48C>A	XP_006715749.1:n.1098+48C>A
NM_002047.4:c.1467+48C>A MANE Select	NP_002038.2:n.1467+48C>A