Canonical Allele Identifier: CA367138631

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595069-G-T
• COSMIC: COSM6336357
• MyVariant Identifiers: chr7:g.30634685G>T (hg19) ; chr7:g.30595069G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595069G>T , CM000669.2:g.30595069G>T	GRCh38
NC_000007.13:g.30634685G>T , CM000669.1:g.30634685G>T	GRCh37
NC_000007.12:g.30601210G>T	NCBI36
NG_007942.1:g.5505G>T , LRG_243:g.5505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.148G>T MANE Select	ENSP00000373918.3:p.Ala50Ser
ENST00000444666.6:c.148G>T	ENSP00000415447.2:p.Ala50Ser
ENST00000454308.6:c.148G>T	ENSP00000392677.2:p.Ala50Ser
ENST00000470392.2:n.238G>T
ENST00000478124.6:n.211G>T
ENST00000485784.2:n.227G>T
ENST00000674616.1:c.148G>T	ENSP00000502408.1:p.Ala50Ser
ENST00000674643.1:c.148G>T	ENSP00000501636.1:p.Ala50Ser
ENST00000674737.1:c.148G>T	ENSP00000502464.1:p.Ala50Ser
ENST00000674807.1:c.148G>T	ENSP00000502814.1:p.Ala50Ser
ENST00000674815.1:c.-148+117G>T	ENSP00000502799.1:n.-148+117G>T
ENST00000674851.1:c.-183-39G>T	ENSP00000502451.1:n.-183-39G>T
ENST00000674969.1:n.188G>T
ENST00000675051.1:c.22-3727G>T	ENSP00000502296.1:n.22-3727G>T
ENST00000675529.1:c.148G>T	ENSP00000501655.1:p.Ala50Ser
ENST00000675587.1:n.164G>T
ENST00000675651.1:c.148G>T	ENSP00000502513.1:p.Ala50Ser
ENST00000675693.1:c.19-39G>T	ENSP00000502174.1:n.19-39G>T
ENST00000675810.1:c.148G>T	ENSP00000502743.1:p.Ala50Ser
ENST00000675859.1:c.148G>T	ENSP00000502033.1:p.Ala50Ser
ENST00000675863.1:n.156G>T
ENST00000675886.1:n.176G>T
ENST00000676088.1:c.148G>T	ENSP00000501884.1:p.Ala50Ser
ENST00000676140.1:c.148G>T	ENSP00000502571.1:p.Ala50Ser
ENST00000676164.1:c.148G>T	ENSP00000501986.1:p.Ala50Ser
ENST00000676210.1:c.148G>T	ENSP00000502373.1:p.Ala50Ser
ENST00000676259.1:c.148G>T	ENSP00000501980.1:p.Ala50Ser
ENST00000676403.1:c.148G>T	ENSP00000502681.1:p.Ala50Ser
ENST00000389266.7:c.148G>T	ENSP00000373918.3:p.Ala50Ser
ENST00000454308.5:c.148G>T	ENSP00000392677.1:p.Ala50Ser
ENST00000478124.5:n.186G>T
ENST00000627489.1:c.148G>T	ENSP00000485931.1:p.Ala50Ser
NM_001316772.1:c.-15G>T	NP_001303701.1:n.-15G>T
NM_002047.2:c.148G>T , LRG_243t1:c.148G>T	NP_002038.2:p.Ala50Ser
NM_002047.3:c.148G>T	NP_002038.2:p.Ala50Ser
XM_006715686.2:c.-332G>T	XP_006715749.1:n.-332G>T
NM_002047.4:c.148G>T MANE Select	NP_002038.2:p.Ala50Ser