Canonical Allele Identifier: CA367124963

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651757A>C (hg19) ; chr7:g.30612141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612141A>C , CM000669.2:g.30612141A>C	GRCh38
NC_000007.13:g.30651757A>C , CM000669.1:g.30651757A>C	GRCh37
NC_000007.12:g.30618282A>C	NCBI36
NG_007942.1:g.22577A>C , LRG_243:g.22577A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.927A>C MANE Select	ENSP00000373918.3:p.Lys309Asn
ENST00000444666.6:c.927A>C	ENSP00000415447.2:p.Lys309Asn
ENST00000470392.2:n.1017A>C
ENST00000478124.6:n.990A>C
ENST00000485784.2:n.1006A>C
ENST00000674616.1:c.*641A>C	ENSP00000502408.1:n.*641A>C
ENST00000674643.1:c.927A>C	ENSP00000501636.1:p.Lys309Asn
ENST00000674734.1:n.1423A>C
ENST00000674737.1:c.*265A>C	ENSP00000502464.1:n.*265A>C
ENST00000674807.1:c.927A>C	ENSP00000502814.1:p.Lys309Asn
ENST00000674815.1:c.558A>C	ENSP00000502799.1:p.Lys186Asn
ENST00000674851.1:c.558A>C	ENSP00000502451.1:p.Lys186Asn
ENST00000674969.1:n.2800A>C
ENST00000675051.1:c.726A>C	ENSP00000502296.1:p.Lys242Asn
ENST00000675529.1:c.*797A>C	ENSP00000501655.1:n.*797A>C
ENST00000675587.1:n.943A>C
ENST00000675651.1:c.927A>C	ENSP00000502513.1:p.Lys309Asn
ENST00000675693.1:c.759A>C	ENSP00000502174.1:p.Lys253Asn
ENST00000675810.1:c.825A>C	ENSP00000502743.1:p.Lys275Asn
ENST00000675859.1:c.927A>C	ENSP00000502033.1:p.Lys309Asn
ENST00000675863.1:n.935A>C
ENST00000675886.1:n.6967A>C
ENST00000676088.1:c.*869A>C	ENSP00000501884.1:n.*869A>C
ENST00000676140.1:c.927A>C	ENSP00000502571.1:p.Lys309Asn
ENST00000676164.1:c.*378A>C	ENSP00000501986.1:n.*378A>C
ENST00000676210.1:c.*216A>C	ENSP00000502373.1:n.*216A>C
ENST00000676259.1:c.*359A>C	ENSP00000501980.1:n.*359A>C
ENST00000676403.1:c.927A>C	ENSP00000502681.1:p.Lys309Asn
ENST00000389266.7:c.927A>C	ENSP00000373918.3:p.Lys309Asn
ENST00000478124.5:n.965A>C
NM_001316772.1:c.765A>C	NP_001303701.1:p.Lys255Asn
NM_002047.2:c.927A>C , LRG_243t1:c.927A>C	NP_002038.2:p.Lys309Asn
NM_002047.3:c.927A>C	NP_002038.2:p.Lys309Asn
XM_006715686.1:c.558A>C	XP_006715749.1:p.Lys186Asn
XM_006715686.2:c.558A>C	XP_006715749.1:p.Lys186Asn
NM_002047.4:c.927A>C MANE Select	NP_002038.2:p.Lys309Asn