Canonical Allele Identifier: CA2600803

Gene: RAB7A

Linked Data

• dbSNP Id: rs745988626
• ExAC: 3:128525322 C / G
• gnomAD v2: 3-128525322-C-G
• gnomAD v4: 3-128806479-C-G
• MyVariant Identifiers: chr3:g.128525322C>G (hg19) ; chr3:g.128806479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806479C>G , CM000665.2:g.128806479C>G	GRCh38
NC_000003.11:g.128525322C>G , CM000665.1:g.128525322C>G	GRCh37
NC_000003.10:g.130008012C>G	NCBI36
NG_008070.1:g.85344C>G , LRG_266:g.85344C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265062.8:c.288C>G MANE Select	ENSP00000265062.3:p.Phe96Leu
ENST00000490093.6:c.288C>G	ENSP00000418955.2:p.Phe96Leu
ENST00000493186.6:c.148-1139C>G	ENSP00000417189.1:n.148-1139C>G
ENST00000674589.1:c.288C>G	ENSP00000502088.1:p.Phe96Leu
ENST00000674593.1:n.286C>G
ENST00000674748.1:c.216C>G	ENSP00000502224.1:p.Phe72Leu
ENST00000675342.1:c.288C>G	ENSP00000502486.1:p.Phe96Leu
ENST00000675497.1:c.288C>G	ENSP00000502000.1:p.Phe96Leu
ENST00000675712.1:n.520C>G
ENST00000675864.1:c.288C>G	ENSP00000502566.1:p.Phe96Leu
ENST00000676147.1:c.368C>G
ENST00000676214.1:c.288C>G	ENSP00000501618.1:p.Phe96Leu
ENST00000676425.1:c.288C>G	ENSP00000502084.1:p.Phe96Leu
ENST00000265062.7:c.288C>G	ENSP00000265062.3:p.Phe96Leu
ENST00000464496.5:c.288C>G	ENSP00000417978.1:p.Phe96Leu
ENST00000482525.5:c.258+30C>G	ENSP00000417668.1:n.258+30C>G
ENST00000483906.5:c.181-1064C>G	ENSP00000417155.1:n.181-1064C>G
ENST00000485280.1:c.181-6848C>G	ENSP00000418283.1:n.181-6848C>G
ENST00000490093.5:c.284+4C>G	ENSP00000418955.1:n.284+4C>G
ENST00000493186.5:c.148-1139C>G	ENSP00000417189.1:n.148-1139C>G
NM_004637.5:c.288C>G , LRG_266t1:c.288C>G	NP_004628.4:p.Phe96Leu
XM_024453745.1:c.288C>G	XP_024309513.1:p.Phe96Leu
XR_002959582.1:n.520C>G
XR_002959583.1:n.448C>G
NM_004637.6:c.288C>G MANE Select	NP_004628.4:p.Phe96Leu