Canonical Allele Identifier: CA219660

Gene: RAB7A

Linked Data

• ClinVar Variation Id: 7347
• ClinVar RCV Id: RCV000007772 ; RCV000059223 ; RCV000789552
• dbSNP Id: rs121909080
• MyVariant Identifiers: chr3:g.128526468A>C (hg19) ; chr3:g.128807625A>C (hg38)
• PubMed: PMID:15455439

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128807625A>C , CM000665.2:g.128807625A>C	GRCh38
NC_000003.11:g.128526468A>C , CM000665.1:g.128526468A>C	GRCh37
NC_000003.10:g.130009158A>C	NCBI36
NG_008070.1:g.86490A>C , LRG_266:g.86490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265062.8:c.482A>C MANE Select	ENSP00000265062.3:p.Asn161Thr
ENST00000490093.6:c.*24A>C	ENSP00000418955.2:n.*24A>C
ENST00000493186.6:c.155A>C	ENSP00000417189.1:p.Asn52Thr
ENST00000674589.1:c.482A>C	ENSP00000502088.1:p.Asn161Thr
ENST00000674593.1:n.480A>C
ENST00000674748.1:c.410A>C	ENSP00000502224.1:p.Asn137Thr
ENST00000675342.1:c.482A>C	ENSP00000502486.1:p.Asn161Thr
ENST00000675497.1:c.482A>C	ENSP00000502000.1:p.Asn161Thr
ENST00000675712.1:n.1666A>C
ENST00000675864.1:c.482A>C	ENSP00000502566.1:p.Asn161Thr
ENST00000676147.1:c.562A>C
ENST00000676214.1:c.482A>C	ENSP00000501618.1:p.Asn161Thr
ENST00000676425.1:c.482A>C	ENSP00000502084.1:p.Asn161Thr
ENST00000265062.7:c.482A>C	ENSP00000265062.3:p.Asn161Thr
ENST00000482525.5:c.341A>C	ENSP00000417668.1:p.Asn114Thr
ENST00000483906.5:c.263A>C	ENSP00000417155.1:p.Asn88Thr
ENST00000485280.1:c.181-5702A>C	ENSP00000418283.1:n.181-5702A>C
ENST00000493186.5:c.155A>C	ENSP00000417189.1:p.Asn52Thr
NM_004637.5:c.482A>C , LRG_266t1:c.482A>C	NP_004628.4:p.Asn161Thr
XM_024453745.1:c.482A>C	XP_024309513.1:p.Asn161Thr
XR_002959582.1:n.1666A>C
XR_002959583.1:n.1594A>C
NM_004637.6:c.482A>C MANE Select	NP_004628.4:p.Asn161Thr