Canonical Allele Identifier: CA367125187

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651816C>T (hg19) ; chr7:g.30612200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612200C>T , CM000669.2:g.30612200C>T	GRCh38
NC_000007.13:g.30651816C>T , CM000669.1:g.30651816C>T	GRCh37
NC_000007.12:g.30618341C>T	NCBI36
NG_007942.1:g.22636C>T , LRG_243:g.22636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.986C>T MANE Select	ENSP00000373918.3:p.Ser329Phe
ENST00000444666.6:c.986C>T	ENSP00000415447.2:p.Ser329Phe
ENST00000470392.2:n.1076C>T
ENST00000478124.6:n.1049C>T
ENST00000485784.2:n.1065C>T
ENST00000674616.1:c.*700C>T	ENSP00000502408.1:n.*700C>T
ENST00000674643.1:c.986C>T	ENSP00000501636.1:p.Ser329Phe
ENST00000674734.1:n.1482C>T
ENST00000674737.1:c.*324C>T	ENSP00000502464.1:n.*324C>T
ENST00000674807.1:c.986C>T	ENSP00000502814.1:p.Ser329Phe
ENST00000674815.1:c.617C>T	ENSP00000502799.1:p.Ser206Phe
ENST00000674851.1:c.617C>T	ENSP00000502451.1:p.Ser206Phe
ENST00000674969.1:n.2859C>T
ENST00000675051.1:c.785C>T	ENSP00000502296.1:p.Ser262Phe
ENST00000675529.1:c.*856C>T	ENSP00000501655.1:n.*856C>T
ENST00000675587.1:n.1002C>T
ENST00000675651.1:c.986C>T	ENSP00000502513.1:p.Ser329Phe
ENST00000675693.1:c.818C>T	ENSP00000502174.1:p.Ser273Phe
ENST00000675810.1:c.884C>T	ENSP00000502743.1:p.Ser295Phe
ENST00000675859.1:c.986C>T	ENSP00000502033.1:p.Ser329Phe
ENST00000675863.1:n.994C>T
ENST00000675886.1:n.7026C>T
ENST00000676088.1:c.*928C>T	ENSP00000501884.1:n.*928C>T
ENST00000676140.1:c.986C>T	ENSP00000502571.1:p.Ser329Phe
ENST00000676164.1:c.*437C>T	ENSP00000501986.1:n.*437C>T
ENST00000676210.1:c.*275C>T	ENSP00000502373.1:n.*275C>T
ENST00000676259.1:c.*418C>T	ENSP00000501980.1:n.*418C>T
ENST00000676403.1:c.986C>T	ENSP00000502681.1:p.Ser329Phe
ENST00000389266.7:c.986C>T	ENSP00000373918.3:p.Ser329Phe
ENST00000478124.5:n.1024C>T
NM_001316772.1:c.824C>T	NP_001303701.1:p.Ser275Phe
NM_002047.2:c.986C>T , LRG_243t1:c.986C>T	NP_002038.2:p.Ser329Phe
NM_002047.3:c.986C>T	NP_002038.2:p.Ser329Phe
XM_006715686.1:c.617C>T	XP_006715749.1:p.Ser206Phe
XM_006715686.2:c.617C>T	XP_006715749.1:p.Ser206Phe
NM_002047.4:c.986C>T MANE Select	NP_002038.2:p.Ser329Phe