Canonical Allele Identifier: CA367125535

Gene: GARS1

Linked Data

• ClinVar Variation Id: 2444135
• ClinVar RCV Id: RCV003152933 ; RCV004246177
• MyVariant Identifiers: chr7:g.30651834C>T (hg19) ; chr7:g.30612218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612218C>T , CM000669.2:g.30612218C>T	GRCh38
NC_000007.13:g.30651834C>T , CM000669.1:g.30651834C>T	GRCh37
NC_000007.12:g.30618359C>T	NCBI36
NG_007942.1:g.22654C>T , LRG_243:g.22654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1004C>T MANE Select	ENSP00000373918.3:p.Ser335Phe
ENST00000444666.6:c.1004C>T	ENSP00000415447.2:p.Ser335Phe
ENST00000470392.2:n.1094C>T
ENST00000478124.6:n.1067C>T
ENST00000485784.2:n.1083C>T
ENST00000674616.1:c.*718C>T	ENSP00000502408.1:n.*718C>T
ENST00000674643.1:c.1004C>T	ENSP00000501636.1:p.Ser335Phe
ENST00000674734.1:n.1500C>T
ENST00000674737.1:c.*342C>T	ENSP00000502464.1:n.*342C>T
ENST00000674807.1:c.1004C>T	ENSP00000502814.1:p.Ser335Phe
ENST00000674815.1:c.635C>T	ENSP00000502799.1:p.Ser212Phe
ENST00000674851.1:c.635C>T	ENSP00000502451.1:p.Ser212Phe
ENST00000674969.1:n.2877C>T
ENST00000675051.1:c.803C>T	ENSP00000502296.1:p.Ser268Phe
ENST00000675529.1:c.*874C>T	ENSP00000501655.1:n.*874C>T
ENST00000675587.1:n.1020C>T
ENST00000675651.1:c.1004C>T	ENSP00000502513.1:p.Ser335Phe
ENST00000675693.1:c.836C>T	ENSP00000502174.1:p.Ser279Phe
ENST00000675810.1:c.902C>T	ENSP00000502743.1:p.Ser301Phe
ENST00000675859.1:c.1004C>T	ENSP00000502033.1:p.Ser335Phe
ENST00000675863.1:n.1012C>T
ENST00000675886.1:n.7044C>T
ENST00000676088.1:c.*946C>T	ENSP00000501884.1:n.*946C>T
ENST00000676140.1:c.1004C>T	ENSP00000502571.1:p.Ser335Phe
ENST00000676164.1:c.*455C>T	ENSP00000501986.1:n.*455C>T
ENST00000676210.1:c.*293C>T	ENSP00000502373.1:n.*293C>T
ENST00000676259.1:c.*436C>T	ENSP00000501980.1:n.*436C>T
ENST00000676403.1:c.1004C>T	ENSP00000502681.1:p.Ser335Phe
ENST00000389266.7:c.1004C>T	ENSP00000373918.3:p.Ser335Phe
ENST00000478124.5:n.1042C>T
NM_001316772.1:c.842C>T	NP_001303701.1:p.Ser281Phe
NM_002047.2:c.1004C>T , LRG_243t1:c.1004C>T	NP_002038.2:p.Ser335Phe
NM_002047.3:c.1004C>T	NP_002038.2:p.Ser335Phe
XM_006715686.1:c.635C>T	XP_006715749.1:p.Ser212Phe
XM_006715686.2:c.635C>T	XP_006715749.1:p.Ser212Phe
NM_002047.4:c.1004C>T MANE Select	NP_002038.2:p.Ser335Phe