Canonical Allele Identifier: CA454246963

Gene: GARS1

Linked Data

• gnomAD v4: 7-30612171-G-A
• MyVariant Identifiers: chr7:g.30651787G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612171G>A , CM000669.2:g.30612171G>A	GRCh38
NC_000007.13:g.30651787G>A , CM000669.1:g.30651787G>A	GRCh37
NC_000007.12:g.30618312G>A	NCBI36
NG_007942.1:g.22607G>A , LRG_243:g.22607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.957G>A MANE Select	ENSP00000373918.3:p.Leu319=
ENST00000444666.6:c.957G>A	ENSP00000415447.2:p.Leu319=
ENST00000470392.2:n.1047G>A
ENST00000478124.6:n.1020G>A
ENST00000485784.2:n.1036G>A
ENST00000674616.1:c.*671G>A	ENSP00000502408.1:n.*671G>A
ENST00000674643.1:c.957G>A	ENSP00000501636.1:p.Leu319=
ENST00000674734.1:n.1453G>A
ENST00000674737.1:c.*295G>A	ENSP00000502464.1:n.*295G>A
ENST00000674807.1:c.957G>A	ENSP00000502814.1:p.Leu319=
ENST00000674815.1:c.588G>A	ENSP00000502799.1:p.Leu196=
ENST00000674851.1:c.588G>A	ENSP00000502451.1:p.Leu196=
ENST00000674969.1:n.2830G>A
ENST00000675051.1:c.756G>A	ENSP00000502296.1:p.Leu252=
ENST00000675529.1:c.*827G>A	ENSP00000501655.1:n.*827G>A
ENST00000675587.1:n.973G>A
ENST00000675651.1:c.957G>A	ENSP00000502513.1:p.Leu319=
ENST00000675693.1:c.789G>A	ENSP00000502174.1:p.Leu263=
ENST00000675810.1:c.855G>A	ENSP00000502743.1:p.Leu285=
ENST00000675859.1:c.957G>A	ENSP00000502033.1:p.Leu319=
ENST00000675863.1:n.965G>A
ENST00000675886.1:n.6997G>A
ENST00000676088.1:c.*899G>A	ENSP00000501884.1:n.*899G>A
ENST00000676140.1:c.957G>A	ENSP00000502571.1:p.Leu319=
ENST00000676164.1:c.*408G>A	ENSP00000501986.1:n.*408G>A
ENST00000676210.1:c.*246G>A	ENSP00000502373.1:n.*246G>A
ENST00000676259.1:c.*389G>A	ENSP00000501980.1:n.*389G>A
ENST00000676403.1:c.957G>A	ENSP00000502681.1:p.Leu319=
ENST00000389266.7:c.957G>A	ENSP00000373918.3:p.Leu319=
ENST00000478124.5:n.995G>A
NM_001316772.1:c.795G>A	NP_001303701.1:p.Leu265=
NM_002047.2:c.957G>A , LRG_243t1:c.957G>A	NP_002038.2:p.Leu319=
NM_002047.3:c.957G>A	NP_002038.2:p.Leu319=
XM_006715686.1:c.588G>A	XP_006715749.1:p.Leu196=
XM_006715686.2:c.588G>A	XP_006715749.1:p.Leu196=
NM_002047.4:c.957G>A MANE Select	NP_002038.2:p.Leu319=