Canonical Allele Identifier: CA367129392

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665897A>C (hg19) ; chr7:g.30626281A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626281A>C , CM000669.2:g.30626281A>C	GRCh38
NC_000007.13:g.30665897A>C , CM000669.1:g.30665897A>C	GRCh37
NC_000007.12:g.30632422A>C	NCBI36
NG_007942.1:g.36717A>C , LRG_243:g.36717A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1661A>C MANE Select	ENSP00000373918.3:p.Asp554Ala
ENST00000444666.6:c.1661A>C	ENSP00000415447.2:p.Asp554Ala
ENST00000470392.2:n.1751A>C
ENST00000485784.2:n.1740A>C
ENST00000674616.1:c.*1375A>C	ENSP00000502408.1:n.*1375A>C
ENST00000674643.1:c.*761A>C	ENSP00000501636.1:n.*761A>C
ENST00000674737.1:c.*999A>C	ENSP00000502464.1:n.*999A>C
ENST00000674807.1:c.1614-2279A>C	ENSP00000502814.1:n.1614-2279A>C
ENST00000674815.1:c.1292A>C	ENSP00000502799.1:p.Asp431Ala
ENST00000674851.1:c.1292A>C	ENSP00000502451.1:p.Asp431Ala
ENST00000674969.1:n.3534A>C
ENST00000675051.1:c.1460A>C	ENSP00000502296.1:p.Asp487Ala
ENST00000675529.1:c.*1531A>C	ENSP00000501655.1:n.*1531A>C
ENST00000675587.1:n.2493A>C
ENST00000675651.1:c.1661A>C	ENSP00000502513.1:p.Asp554Ala
ENST00000675693.1:c.1493A>C	ENSP00000502174.1:p.Asp498Ala
ENST00000675810.1:c.1559A>C	ENSP00000502743.1:p.Asp520Ala
ENST00000675859.1:c.1614-2279A>C	ENSP00000502033.1:n.1614-2279A>C
ENST00000675863.1:n.1669A>C
ENST00000675886.1:n.7701A>C
ENST00000676088.1:c.*1603A>C	ENSP00000501884.1:n.*1603A>C
ENST00000676140.1:c.*606A>C	ENSP00000502571.1:n.*606A>C
ENST00000676164.1:c.*1112A>C	ENSP00000501986.1:n.*1112A>C
ENST00000676210.1:c.*950A>C	ENSP00000502373.1:n.*950A>C
ENST00000676259.1:c.*1093A>C	ENSP00000501980.1:n.*1093A>C
ENST00000676403.1:c.1661A>C	ENSP00000502681.1:p.Asp554Ala
ENST00000389266.7:c.1661A>C	ENSP00000373918.3:p.Asp554Ala
ENST00000444666.5:c.182A>C	ENSP00000415447.1:p.Asp61Ala
ENST00000470392.1:n.383A>C
NM_001316772.1:c.1499A>C	NP_001303701.1:p.Asp500Ala
NM_002047.2:c.1661A>C , LRG_243t1:c.1661A>C	NP_002038.2:p.Asp554Ala
NM_002047.3:c.1661A>C	NP_002038.2:p.Asp554Ala
XM_006715686.1:c.1292A>C	XP_006715749.1:p.Asp431Ala
XM_006715686.2:c.1292A>C	XP_006715749.1:p.Asp431Ala
NM_002047.4:c.1661A>C MANE Select	NP_002038.2:p.Asp554Ala