Canonical Allele Identifier: CA573455253

Gene: GARS1

Linked Data

• dbSNP Id: rs1171644342
• gnomAD v2: 7-30665953-AT-A
• MyVariant Identifiers: chr7:g.30665954del (hg19) ; chr7:g.30626338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626338del , CM000669.2:g.30626338del	GRCh38
NC_000007.13:g.30665954del , CM000669.1:g.30665954del	GRCh37
NC_000007.12:g.30632479del	NCBI36
NG_007942.1:g.36774del , LRG_243:g.36774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+19del MANE Select	ENSP00000373918.3:n.1699+19del
ENST00000444666.6:c.1699+19del	ENSP00000415447.2:n.1699+19del
ENST00000470392.2:n.1789+19del
ENST00000485784.2:n.1778+19del
ENST00000674616.1:c.*1413+19del	ENSP00000502408.1:n.*1413+19del
ENST00000674643.1:c.*799+19del	ENSP00000501636.1:n.*799+19del
ENST00000674737.1:c.*1037+19del	ENSP00000502464.1:n.*1037+19del
ENST00000674807.1:c.1614-2222del	ENSP00000502814.1:n.1614-2222del
ENST00000674815.1:c.1330+19del	ENSP00000502799.1:n.1330+19del
ENST00000674851.1:c.1330+19del	ENSP00000502451.1:n.1330+19del
ENST00000674969.1:n.3572+19del
ENST00000675051.1:c.1498+19del	ENSP00000502296.1:n.1498+19del
ENST00000675529.1:c.*1569+19del	ENSP00000501655.1:n.*1569+19del
ENST00000675587.1:n.2531+19del
ENST00000675651.1:c.1699+19del	ENSP00000502513.1:n.1699+19del
ENST00000675693.1:c.1531+19del	ENSP00000502174.1:n.1531+19del
ENST00000675810.1:c.1597+19del	ENSP00000502743.1:n.1597+19del
ENST00000675859.1:c.1614-2222del	ENSP00000502033.1:n.1614-2222del
ENST00000675863.1:n.1707+19del
ENST00000675886.1:n.7739+19del
ENST00000676088.1:c.*1641+19del	ENSP00000501884.1:n.*1641+19del
ENST00000676140.1:c.*644+19del	ENSP00000502571.1:n.*644+19del
ENST00000676164.1:c.*1150+19del	ENSP00000501986.1:n.*1150+19del
ENST00000676210.1:c.*988+19del	ENSP00000502373.1:n.*988+19del
ENST00000676259.1:c.*1131+19del	ENSP00000501980.1:n.*1131+19del
ENST00000676403.1:c.1699+19del	ENSP00000502681.1:n.1699+19del
ENST00000389266.7:c.1699+19del	ENSP00000373918.3:n.1699+19del
ENST00000444666.5:c.220+19del	ENSP00000415447.1:n.220+19del
ENST00000470392.1:n.421+19del
NM_001316772.1:c.1537+19del	NP_001303701.1:n.1537+19del
NM_002047.2:c.1699+19del , LRG_243t1:c.1699+19del	NP_002038.2:n.1699+19del
NM_002047.3:c.1699+19del	NP_002038.2:n.1699+19del
XM_006715686.1:c.1330+19del	XP_006715749.1:n.1330+19del
XM_006715686.2:c.1330+19del	XP_006715749.1:n.1330+19del
NM_002047.4:c.1699+19del MANE Select	NP_002038.2:n.1699+19del