Canonical Allele Identifier: CA354708808

Gene: RAB7A

Linked Data

• MyVariant Identifiers: chr3:g.128525323A>G (hg19) ; chr3:g.128806480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806480A>G , CM000665.2:g.128806480A>G	GRCh38
NC_000003.11:g.128525323A>G , CM000665.1:g.128525323A>G	GRCh37
NC_000003.10:g.130008013A>G	NCBI36
NG_008070.1:g.85345A>G , LRG_266:g.85345A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265062.8:c.289A>G MANE Select	ENSP00000265062.3:p.Lys97Glu
ENST00000490093.6:c.289A>G	ENSP00000418955.2:p.Lys97Glu
ENST00000493186.6:c.148-1138A>G	ENSP00000417189.1:n.148-1138A>G
ENST00000674589.1:c.289A>G	ENSP00000502088.1:p.Lys97Glu
ENST00000674593.1:n.287A>G
ENST00000674748.1:c.217A>G	ENSP00000502224.1:p.Lys73Glu
ENST00000675342.1:c.289A>G	ENSP00000502486.1:p.Lys97Glu
ENST00000675497.1:c.289A>G	ENSP00000502000.1:p.Lys97Glu
ENST00000675712.1:n.521A>G
ENST00000675864.1:c.289A>G	ENSP00000502566.1:p.Lys97Glu
ENST00000676147.1:c.369A>G
ENST00000676214.1:c.289A>G	ENSP00000501618.1:p.Lys97Glu
ENST00000676425.1:c.289A>G	ENSP00000502084.1:p.Lys97Glu
ENST00000265062.7:c.289A>G	ENSP00000265062.3:p.Lys97Glu
ENST00000464496.5:c.289A>G	ENSP00000417978.1:p.Lys97Glu
ENST00000482525.5:c.258+31A>G	ENSP00000417668.1:n.258+31A>G
ENST00000483906.5:c.181-1063A>G	ENSP00000417155.1:n.181-1063A>G
ENST00000485280.1:c.181-6847A>G	ENSP00000418283.1:n.181-6847A>G
ENST00000490093.5:c.284+5A>G	ENSP00000418955.1:n.284+5A>G
ENST00000493186.5:c.148-1138A>G	ENSP00000417189.1:n.148-1138A>G
NM_004637.5:c.289A>G , LRG_266t1:c.289A>G	NP_004628.4:p.Lys97Glu
XM_024453745.1:c.289A>G	XP_024309513.1:p.Lys97Glu
XR_002959582.1:n.521A>G
XR_002959583.1:n.449A>G
NM_004637.6:c.289A>G MANE Select	NP_004628.4:p.Lys97Glu