Canonical Allele Identifier: CA367124230

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649241T>C (hg19) ; chr7:g.30609625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609625T>C , CM000669.2:g.30609625T>C	GRCh38
NC_000007.13:g.30649241T>C , CM000669.1:g.30649241T>C	GRCh37
NC_000007.12:g.30615766T>C	NCBI36
NG_007942.1:g.20061T>C , LRG_243:g.20061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.776T>C MANE Select	ENSP00000373918.3:p.Val259Ala
ENST00000444666.6:c.776T>C	ENSP00000415447.2:p.Val259Ala
ENST00000470392.2:n.866T>C
ENST00000478124.6:n.839T>C
ENST00000485784.2:n.855T>C
ENST00000674616.1:c.*490T>C	ENSP00000502408.1:n.*490T>C
ENST00000674643.1:c.776T>C	ENSP00000501636.1:p.Val259Ala
ENST00000674734.1:n.1272T>C
ENST00000674737.1:c.*114T>C	ENSP00000502464.1:n.*114T>C
ENST00000674807.1:c.776T>C	ENSP00000502814.1:p.Val259Ala
ENST00000674815.1:c.407T>C	ENSP00000502799.1:p.Val136Ala
ENST00000674851.1:c.407T>C	ENSP00000502451.1:p.Val136Ala
ENST00000674969.1:n.2649T>C
ENST00000675051.1:c.575T>C	ENSP00000502296.1:p.Val192Ala
ENST00000675529.1:c.*646T>C	ENSP00000501655.1:n.*646T>C
ENST00000675587.1:n.792T>C
ENST00000675651.1:c.776T>C	ENSP00000502513.1:p.Val259Ala
ENST00000675693.1:c.608T>C	ENSP00000502174.1:p.Val203Ala
ENST00000675810.1:c.674T>C	ENSP00000502743.1:p.Val225Ala
ENST00000675859.1:c.776T>C	ENSP00000502033.1:p.Val259Ala
ENST00000675863.1:n.784T>C
ENST00000675886.1:n.6816T>C
ENST00000676088.1:c.*718T>C	ENSP00000501884.1:n.*718T>C
ENST00000676140.1:c.776T>C	ENSP00000502571.1:p.Val259Ala
ENST00000676164.1:c.*227T>C	ENSP00000501986.1:n.*227T>C
ENST00000676210.1:c.*65T>C	ENSP00000502373.1:n.*65T>C
ENST00000676259.1:c.*208T>C	ENSP00000501980.1:n.*208T>C
ENST00000676403.1:c.776T>C	ENSP00000502681.1:p.Val259Ala
ENST00000389266.7:c.776T>C	ENSP00000373918.3:p.Val259Ala
ENST00000478124.5:n.814T>C
NM_001316772.1:c.614T>C	NP_001303701.1:p.Val205Ala
NM_002047.2:c.776T>C , LRG_243t1:c.776T>C	NP_002038.2:p.Val259Ala
NM_002047.3:c.776T>C	NP_002038.2:p.Val259Ala
XM_006715686.1:c.407T>C	XP_006715749.1:p.Val136Ala
XM_006715686.2:c.407T>C	XP_006715749.1:p.Val136Ala
NM_002047.4:c.776T>C MANE Select	NP_002038.2:p.Val259Ala