Canonical Allele Identifier: CA367124953

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612139-A-C
• MyVariant Identifiers: chr7:g.30651755A>C (hg19) ; chr7:g.30612139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612139A>C , CM000669.2:g.30612139A>C	GRCh38
NC_000007.13:g.30651755A>C , CM000669.1:g.30651755A>C	GRCh37
NC_000007.12:g.30618280A>C	NCBI36
NG_007942.1:g.22575A>C , LRG_243:g.22575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.925A>C MANE Select	ENSP00000373918.3:p.Lys309Gln
ENST00000444666.6:c.925A>C	ENSP00000415447.2:p.Lys309Gln
ENST00000470392.2:n.1015A>C
ENST00000478124.6:n.988A>C
ENST00000485784.2:n.1004A>C
ENST00000674616.1:c.*639A>C	ENSP00000502408.1:n.*639A>C
ENST00000674643.1:c.925A>C	ENSP00000501636.1:p.Lys309Gln
ENST00000674734.1:n.1421A>C
ENST00000674737.1:c.*263A>C	ENSP00000502464.1:n.*263A>C
ENST00000674807.1:c.925A>C	ENSP00000502814.1:p.Lys309Gln
ENST00000674815.1:c.556A>C	ENSP00000502799.1:p.Lys186Gln
ENST00000674851.1:c.556A>C	ENSP00000502451.1:p.Lys186Gln
ENST00000674969.1:n.2798A>C
ENST00000675051.1:c.724A>C	ENSP00000502296.1:p.Lys242Gln
ENST00000675529.1:c.*795A>C	ENSP00000501655.1:n.*795A>C
ENST00000675587.1:n.941A>C
ENST00000675651.1:c.925A>C	ENSP00000502513.1:p.Lys309Gln
ENST00000675693.1:c.757A>C	ENSP00000502174.1:p.Lys253Gln
ENST00000675810.1:c.823A>C	ENSP00000502743.1:p.Lys275Gln
ENST00000675859.1:c.925A>C	ENSP00000502033.1:p.Lys309Gln
ENST00000675863.1:n.933A>C
ENST00000675886.1:n.6965A>C
ENST00000676088.1:c.*867A>C	ENSP00000501884.1:n.*867A>C
ENST00000676140.1:c.925A>C	ENSP00000502571.1:p.Lys309Gln
ENST00000676164.1:c.*376A>C	ENSP00000501986.1:n.*376A>C
ENST00000676210.1:c.*214A>C	ENSP00000502373.1:n.*214A>C
ENST00000676259.1:c.*357A>C	ENSP00000501980.1:n.*357A>C
ENST00000676403.1:c.925A>C	ENSP00000502681.1:p.Lys309Gln
ENST00000389266.7:c.925A>C	ENSP00000373918.3:p.Lys309Gln
ENST00000478124.5:n.963A>C
NM_001316772.1:c.763A>C	NP_001303701.1:p.Lys255Gln
NM_002047.2:c.925A>C , LRG_243t1:c.925A>C	NP_002038.2:p.Lys309Gln
NM_002047.3:c.925A>C	NP_002038.2:p.Lys309Gln
XM_006715686.1:c.556A>C	XP_006715749.1:p.Lys186Gln
XM_006715686.2:c.556A>C	XP_006715749.1:p.Lys186Gln
NM_002047.4:c.925A>C MANE Select	NP_002038.2:p.Lys309Gln