Canonical Allele Identifier: CA367127931

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661013G>C (hg19) ; chr7:g.30621397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621397G>C , CM000669.2:g.30621397G>C	GRCh38
NC_000007.13:g.30661013G>C , CM000669.1:g.30661013G>C	GRCh37
NC_000007.12:g.30627538G>C	NCBI36
NG_007942.1:g.31833G>C , LRG_243:g.31833G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1364G>C MANE Select	ENSP00000373918.3:p.Trp455Ser
ENST00000444666.6:c.1364G>C	ENSP00000415447.2:p.Trp455Ser
ENST00000470392.2:n.1454G>C
ENST00000478124.6:n.1427G>C
ENST00000485784.2:n.1443G>C
ENST00000674616.1:c.*1078G>C	ENSP00000502408.1:n.*1078G>C
ENST00000674643.1:c.*464G>C	ENSP00000501636.1:n.*464G>C
ENST00000674734.1:n.1860G>C
ENST00000674737.1:c.*702G>C	ENSP00000502464.1:n.*702G>C
ENST00000674807.1:c.1364G>C	ENSP00000502814.1:p.Trp455Ser
ENST00000674815.1:c.995G>C	ENSP00000502799.1:p.Trp332Ser
ENST00000674851.1:c.995G>C	ENSP00000502451.1:p.Trp332Ser
ENST00000674969.1:n.3237G>C
ENST00000675051.1:c.1163G>C	ENSP00000502296.1:p.Trp388Ser
ENST00000675529.1:c.*1234G>C	ENSP00000501655.1:n.*1234G>C
ENST00000675587.1:n.1380G>C
ENST00000675651.1:c.1364G>C	ENSP00000502513.1:p.Trp455Ser
ENST00000675693.1:c.1196G>C	ENSP00000502174.1:p.Trp399Ser
ENST00000675810.1:c.1262G>C	ENSP00000502743.1:p.Trp421Ser
ENST00000675859.1:c.1364G>C	ENSP00000502033.1:p.Trp455Ser
ENST00000675863.1:n.1372G>C
ENST00000675886.1:n.7404G>C
ENST00000676088.1:c.*1306G>C	ENSP00000501884.1:n.*1306G>C
ENST00000676140.1:c.*309G>C	ENSP00000502571.1:n.*309G>C
ENST00000676164.1:c.*815G>C	ENSP00000501986.1:n.*815G>C
ENST00000676210.1:c.*653G>C	ENSP00000502373.1:n.*653G>C
ENST00000676259.1:c.*796G>C	ENSP00000501980.1:n.*796G>C
ENST00000676403.1:c.1364G>C	ENSP00000502681.1:p.Trp455Ser
ENST00000389266.7:c.1364G>C	ENSP00000373918.3:p.Trp455Ser
ENST00000478124.5:n.1402G>C
ENST00000484093.1:n.363G>C
NM_001316772.1:c.1202G>C	NP_001303701.1:p.Trp401Ser
NM_002047.2:c.1364G>C , LRG_243t1:c.1364G>C	NP_002038.2:p.Trp455Ser
NM_002047.3:c.1364G>C	NP_002038.2:p.Trp455Ser
XM_006715686.1:c.995G>C	XP_006715749.1:p.Trp332Ser
XM_006715686.2:c.995G>C	XP_006715749.1:p.Trp332Ser
NM_002047.4:c.1364G>C MANE Select	NP_002038.2:p.Trp455Ser