Canonical Allele Identifier: CA367129409

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665903T>C (hg19) ; chr7:g.30626287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626287T>C , CM000669.2:g.30626287T>C	GRCh38
NC_000007.13:g.30665903T>C , CM000669.1:g.30665903T>C	GRCh37
NC_000007.12:g.30632428T>C	NCBI36
NG_007942.1:g.36723T>C , LRG_243:g.36723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1667T>C MANE Select	ENSP00000373918.3:p.Ile556Thr
ENST00000444666.6:c.1667T>C	ENSP00000415447.2:p.Ile556Thr
ENST00000470392.2:n.1757T>C
ENST00000485784.2:n.1746T>C
ENST00000674616.1:c.*1381T>C	ENSP00000502408.1:n.*1381T>C
ENST00000674643.1:c.*767T>C	ENSP00000501636.1:n.*767T>C
ENST00000674737.1:c.*1005T>C	ENSP00000502464.1:n.*1005T>C
ENST00000674807.1:c.1614-2273T>C	ENSP00000502814.1:n.1614-2273T>C
ENST00000674815.1:c.1298T>C	ENSP00000502799.1:p.Ile433Thr
ENST00000674851.1:c.1298T>C	ENSP00000502451.1:p.Ile433Thr
ENST00000674969.1:n.3540T>C
ENST00000675051.1:c.1466T>C	ENSP00000502296.1:p.Ile489Thr
ENST00000675529.1:c.*1537T>C	ENSP00000501655.1:n.*1537T>C
ENST00000675587.1:n.2499T>C
ENST00000675651.1:c.1667T>C	ENSP00000502513.1:p.Ile556Thr
ENST00000675693.1:c.1499T>C	ENSP00000502174.1:p.Ile500Thr
ENST00000675810.1:c.1565T>C	ENSP00000502743.1:p.Ile522Thr
ENST00000675859.1:c.1614-2273T>C	ENSP00000502033.1:n.1614-2273T>C
ENST00000675863.1:n.1675T>C
ENST00000675886.1:n.7707T>C
ENST00000676088.1:c.*1609T>C	ENSP00000501884.1:n.*1609T>C
ENST00000676140.1:c.*612T>C	ENSP00000502571.1:n.*612T>C
ENST00000676164.1:c.*1118T>C	ENSP00000501986.1:n.*1118T>C
ENST00000676210.1:c.*956T>C	ENSP00000502373.1:n.*956T>C
ENST00000676259.1:c.*1099T>C	ENSP00000501980.1:n.*1099T>C
ENST00000676403.1:c.1667T>C	ENSP00000502681.1:p.Ile556Thr
ENST00000389266.7:c.1667T>C	ENSP00000373918.3:p.Ile556Thr
ENST00000444666.5:c.188T>C	ENSP00000415447.1:p.Ile63Thr
ENST00000470392.1:n.389T>C
NM_001316772.1:c.1505T>C	NP_001303701.1:p.Ile502Thr
NM_002047.2:c.1667T>C , LRG_243t1:c.1667T>C	NP_002038.2:p.Ile556Thr
NM_002047.3:c.1667T>C	NP_002038.2:p.Ile556Thr
XM_006715686.1:c.1298T>C	XP_006715749.1:p.Ile433Thr
XM_006715686.2:c.1298T>C	XP_006715749.1:p.Ile433Thr
NM_002047.4:c.1667T>C MANE Select	NP_002038.2:p.Ile556Thr