Canonical Allele Identifier: CA367124351

Gene: GARS1

Linked Data

• ClinVar Variation Id: 476762
• ClinVar RCV Id: RCV000533118 ; RCV000734019 ; RCV000789776 ; RCV003447146
• dbSNP Id: rs1554337974
• MyVariant Identifiers: chr7:g.30649259C>T (hg19) ; chr7:g.30609643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609643C>T , CM000669.2:g.30609643C>T	GRCh38
NC_000007.13:g.30649259C>T , CM000669.1:g.30649259C>T	GRCh37
NC_000007.12:g.30615784C>T	NCBI36
NG_007942.1:g.20079C>T , LRG_243:g.20079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.794C>T MANE Select	ENSP00000373918.3:p.Ser265Phe
ENST00000444666.6:c.794C>T	ENSP00000415447.2:p.Ser265Phe
ENST00000470392.2:n.884C>T
ENST00000478124.6:n.857C>T
ENST00000485784.2:n.873C>T
ENST00000674616.1:c.*508C>T	ENSP00000502408.1:n.*508C>T
ENST00000674643.1:c.794C>T	ENSP00000501636.1:p.Ser265Phe
ENST00000674734.1:n.1290C>T
ENST00000674737.1:c.*132C>T	ENSP00000502464.1:n.*132C>T
ENST00000674807.1:c.794C>T	ENSP00000502814.1:p.Ser265Phe
ENST00000674815.1:c.425C>T	ENSP00000502799.1:p.Ser142Phe
ENST00000674851.1:c.425C>T	ENSP00000502451.1:p.Ser142Phe
ENST00000674969.1:n.2667C>T
ENST00000675051.1:c.593C>T	ENSP00000502296.1:p.Ser198Phe
ENST00000675529.1:c.*664C>T	ENSP00000501655.1:n.*664C>T
ENST00000675587.1:n.810C>T
ENST00000675651.1:c.794C>T	ENSP00000502513.1:p.Ser265Phe
ENST00000675693.1:c.626C>T	ENSP00000502174.1:p.Ser209Phe
ENST00000675810.1:c.692C>T	ENSP00000502743.1:p.Ser231Phe
ENST00000675859.1:c.794C>T	ENSP00000502033.1:p.Ser265Phe
ENST00000675863.1:n.802C>T
ENST00000675886.1:n.6834C>T
ENST00000676088.1:c.*736C>T	ENSP00000501884.1:n.*736C>T
ENST00000676140.1:c.794C>T	ENSP00000502571.1:p.Ser265Phe
ENST00000676164.1:c.*245C>T	ENSP00000501986.1:n.*245C>T
ENST00000676210.1:c.*83C>T	ENSP00000502373.1:n.*83C>T
ENST00000676259.1:c.*226C>T	ENSP00000501980.1:n.*226C>T
ENST00000676403.1:c.794C>T	ENSP00000502681.1:p.Ser265Phe
ENST00000389266.7:c.794C>T	ENSP00000373918.3:p.Ser265Phe
ENST00000478124.5:n.832C>T
NM_001316772.1:c.632C>T	NP_001303701.1:p.Ser211Phe
NM_002047.2:c.794C>T , LRG_243t1:c.794C>T	NP_002038.2:p.Ser265Phe
NM_002047.3:c.794C>T	NP_002038.2:p.Ser265Phe
XM_006715686.1:c.425C>T	XP_006715749.1:p.Ser142Phe
XM_006715686.2:c.425C>T	XP_006715749.1:p.Ser142Phe
NM_002047.4:c.794C>T MANE Select	NP_002038.2:p.Ser265Phe