Canonical Allele Identifier: CA156060311

Gene: GARS1

Linked Data

• dbSNP Id: rs891150835
• gnomAD v2: 7-30671018-T-C
• gnomAD v3: 7-30631402-T-C
• gnomAD v4: 7-30631402-T-C
• MyVariant Identifiers: chr7:g.30671018T>C (hg19) ; chr7:g.30631402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30631402T>C , CM000669.2:g.30631402T>C	GRCh38
NC_000007.13:g.30671018T>C , CM000669.1:g.30671018T>C	GRCh37
NC_000007.12:g.30637543T>C	NCBI36
NG_007942.1:g.41838T>C , LRG_243:g.41838T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1810-46T>C MANE Select	ENSP00000373918.3:n.1810-46T>C
ENST00000444666.6:c.*231-46T>C	ENSP00000415447.2:n.*231-46T>C
ENST00000465748.2:n.1291-46T>C
ENST00000470392.2:n.4632T>C
ENST00000485784.2:n.4621T>C
ENST00000496643.2:n.2859T>C
ENST00000674616.1:c.*1524-46T>C	ENSP00000502408.1:n.*1524-46T>C
ENST00000674643.1:c.*910-46T>C	ENSP00000501636.1:n.*910-46T>C
ENST00000674737.1:c.*1148-46T>C	ENSP00000502464.1:n.*1148-46T>C
ENST00000674807.1:c.*83-46T>C	ENSP00000502814.1:n.*83-46T>C
ENST00000674815.1:c.1441-46T>C	ENSP00000502799.1:n.1441-46T>C
ENST00000674851.1:c.1441-46T>C	ENSP00000502451.1:n.1441-46T>C
ENST00000674969.1:n.3683-46T>C
ENST00000675051.1:c.1609-46T>C	ENSP00000502296.1:n.1609-46T>C
ENST00000675529.1:c.*1680-46T>C	ENSP00000501655.1:n.*1680-46T>C
ENST00000675587.1:n.2642-46T>C
ENST00000675651.1:c.1810-46T>C	ENSP00000502513.1:n.1810-46T>C
ENST00000675693.1:c.1642-46T>C	ENSP00000502174.1:n.1642-46T>C
ENST00000675810.1:c.1708-46T>C	ENSP00000502743.1:n.1708-46T>C
ENST00000675859.1:c.*83-845T>C	ENSP00000502033.1:n.*83-845T>C
ENST00000675863.1:n.1818-46T>C
ENST00000675886.1:n.7850-46T>C
ENST00000676088.1:c.*1752-46T>C	ENSP00000501884.1:n.*1752-46T>C
ENST00000676140.1:c.*755-46T>C	ENSP00000502571.1:n.*755-46T>C
ENST00000676164.1:c.*1261-46T>C	ENSP00000501986.1:n.*1261-46T>C
ENST00000676210.1:c.*1099-46T>C	ENSP00000502373.1:n.*1099-46T>C
ENST00000676259.1:c.*1242-46T>C	ENSP00000501980.1:n.*1242-46T>C
ENST00000676403.1:c.1810-845T>C	ENSP00000502681.1:n.1810-845T>C
ENST00000389266.7:c.1810-46T>C	ENSP00000373918.3:n.1810-46T>C
ENST00000444666.5:c.465-46T>C	ENSP00000415447.1:n.465-46T>C
ENST00000465748.1:n.181-46T>C
ENST00000485784.1:n.254T>C
NM_001316772.1:c.1648-46T>C	NP_001303701.1:n.1648-46T>C
NM_002047.2:c.1810-46T>C , LRG_243t1:c.1810-46T>C	NP_002038.2:n.1810-46T>C
NM_002047.3:c.1810-46T>C	NP_002038.2:n.1810-46T>C
XM_006715686.1:c.1441-46T>C	XP_006715749.1:n.1441-46T>C
XM_006715686.2:c.1441-46T>C	XP_006715749.1:n.1441-46T>C
NM_002047.4:c.1810-46T>C MANE Select	NP_002038.2:n.1810-46T>C