Canonical Allele Identifier: CA454246829

Gene: GARS1

Linked Data

• gnomAD v4: 7-30609695-C-T
• MyVariant Identifiers: chr7:g.30649311C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609695C>T , CM000669.2:g.30609695C>T	GRCh38
NC_000007.13:g.30649311C>T , CM000669.1:g.30649311C>T	GRCh37
NC_000007.12:g.30615836C>T	NCBI36
NG_007942.1:g.20131C>T , LRG_243:g.20131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.846C>T MANE Select	ENSP00000373918.3:p.Phe282=
ENST00000444666.6:c.846C>T	ENSP00000415447.2:p.Phe282=
ENST00000470392.2:n.936C>T
ENST00000478124.6:n.909C>T
ENST00000485784.2:n.925C>T
ENST00000674616.1:c.*560C>T	ENSP00000502408.1:n.*560C>T
ENST00000674643.1:c.846C>T	ENSP00000501636.1:p.Phe282=
ENST00000674734.1:n.1342C>T
ENST00000674737.1:c.*184C>T	ENSP00000502464.1:n.*184C>T
ENST00000674807.1:c.846C>T	ENSP00000502814.1:p.Phe282=
ENST00000674815.1:c.477C>T	ENSP00000502799.1:p.Phe159=
ENST00000674851.1:c.477C>T	ENSP00000502451.1:p.Phe159=
ENST00000674969.1:n.2719C>T
ENST00000675051.1:c.645C>T	ENSP00000502296.1:p.Phe215=
ENST00000675529.1:c.*716C>T	ENSP00000501655.1:n.*716C>T
ENST00000675587.1:n.862C>T
ENST00000675651.1:c.846C>T	ENSP00000502513.1:p.Phe282=
ENST00000675693.1:c.678C>T	ENSP00000502174.1:p.Phe226=
ENST00000675810.1:c.744C>T	ENSP00000502743.1:p.Phe248=
ENST00000675859.1:c.846C>T	ENSP00000502033.1:p.Phe282=
ENST00000675863.1:n.854C>T
ENST00000675886.1:n.6886C>T
ENST00000676088.1:c.*788C>T	ENSP00000501884.1:n.*788C>T
ENST00000676140.1:c.846C>T	ENSP00000502571.1:p.Phe282=
ENST00000676164.1:c.*297C>T	ENSP00000501986.1:n.*297C>T
ENST00000676210.1:c.*135C>T	ENSP00000502373.1:n.*135C>T
ENST00000676259.1:c.*278C>T	ENSP00000501980.1:n.*278C>T
ENST00000676403.1:c.846C>T	ENSP00000502681.1:p.Phe282=
ENST00000389266.7:c.846C>T	ENSP00000373918.3:p.Phe282=
ENST00000478124.5:n.884C>T
NM_001316772.1:c.684C>T	NP_001303701.1:p.Phe228=
NM_002047.2:c.846C>T , LRG_243t1:c.846C>T	NP_002038.2:p.Phe282=
NM_002047.3:c.846C>T	NP_002038.2:p.Phe282=
XM_006715686.1:c.477C>T	XP_006715749.1:p.Phe159=
XM_006715686.2:c.477C>T	XP_006715749.1:p.Phe159=
NM_002047.4:c.846C>T MANE Select	NP_002038.2:p.Phe282=