Canonical Allele Identifier: CA367124949

Gene: GARS1

Linked Data

• dbSNP Id: rs1782769537
• MyVariant Identifiers: chr7:g.30651754C>A (hg19) ; chr7:g.30612138C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612138C>A , CM000669.2:g.30612138C>A	GRCh38
NC_000007.13:g.30651754C>A , CM000669.1:g.30651754C>A	GRCh37
NC_000007.12:g.30618279C>A	NCBI36
NG_007942.1:g.22574C>A , LRG_243:g.22574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.924C>A MANE Select	ENSP00000373918.3:p.Phe308Leu
ENST00000444666.6:c.924C>A	ENSP00000415447.2:p.Phe308Leu
ENST00000470392.2:n.1014C>A
ENST00000478124.6:n.987C>A
ENST00000485784.2:n.1003C>A
ENST00000674616.1:c.*638C>A	ENSP00000502408.1:n.*638C>A
ENST00000674643.1:c.924C>A	ENSP00000501636.1:p.Phe308Leu
ENST00000674734.1:n.1420C>A
ENST00000674737.1:c.*262C>A	ENSP00000502464.1:n.*262C>A
ENST00000674807.1:c.924C>A	ENSP00000502814.1:p.Phe308Leu
ENST00000674815.1:c.555C>A	ENSP00000502799.1:p.Phe185Leu
ENST00000674851.1:c.555C>A	ENSP00000502451.1:p.Phe185Leu
ENST00000674969.1:n.2797C>A
ENST00000675051.1:c.723C>A	ENSP00000502296.1:p.Phe241Leu
ENST00000675529.1:c.*794C>A	ENSP00000501655.1:n.*794C>A
ENST00000675587.1:n.940C>A
ENST00000675651.1:c.924C>A	ENSP00000502513.1:p.Phe308Leu
ENST00000675693.1:c.756C>A	ENSP00000502174.1:p.Phe252Leu
ENST00000675810.1:c.822C>A	ENSP00000502743.1:p.Phe274Leu
ENST00000675859.1:c.924C>A	ENSP00000502033.1:p.Phe308Leu
ENST00000675863.1:n.932C>A
ENST00000675886.1:n.6964C>A
ENST00000676088.1:c.*866C>A	ENSP00000501884.1:n.*866C>A
ENST00000676140.1:c.924C>A	ENSP00000502571.1:p.Phe308Leu
ENST00000676164.1:c.*375C>A	ENSP00000501986.1:n.*375C>A
ENST00000676210.1:c.*213C>A	ENSP00000502373.1:n.*213C>A
ENST00000676259.1:c.*356C>A	ENSP00000501980.1:n.*356C>A
ENST00000676403.1:c.924C>A	ENSP00000502681.1:p.Phe308Leu
ENST00000389266.7:c.924C>A	ENSP00000373918.3:p.Phe308Leu
ENST00000478124.5:n.962C>A
NM_001316772.1:c.762C>A	NP_001303701.1:p.Phe254Leu
NM_002047.2:c.924C>A , LRG_243t1:c.924C>A	NP_002038.2:p.Phe308Leu
NM_002047.3:c.924C>A	NP_002038.2:p.Phe308Leu
XM_006715686.1:c.555C>A	XP_006715749.1:p.Phe185Leu
XM_006715686.2:c.555C>A	XP_006715749.1:p.Phe185Leu
NM_002047.4:c.924C>A MANE Select	NP_002038.2:p.Phe308Leu