Canonical Allele Identifier: CA219658

Gene: RAB7A

Linked Data

• ClinVar Variation Id: 7348
• ClinVar RCV Id: RCV000007773 ; RCV000059222 ; RCV000789553
• dbSNP Id: rs121909081
• MyVariant Identifiers: chr3:g.128526457G>C (hg19) ; chr3:g.128807614G>C (hg38)
• PubMed: PMID:17060578 ; PMID:19531583

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128807614G>C , CM000665.2:g.128807614G>C	GRCh38
NC_000003.11:g.128526457G>C , CM000665.1:g.128526457G>C	GRCh37
NC_000003.10:g.130009147G>C	NCBI36
NG_008070.1:g.86479G>C , LRG_266:g.86479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265062.8:c.471G>C MANE Select	ENSP00000265062.3:p.Lys157Asn
ENST00000490093.6:c.*13G>C	ENSP00000418955.2:n.*13G>C
ENST00000493186.6:c.148-4G>C	ENSP00000417189.1:n.148-4G>C
ENST00000674589.1:c.471G>C	ENSP00000502088.1:p.Lys157Asn
ENST00000674593.1:n.469G>C
ENST00000674748.1:c.399G>C	ENSP00000502224.1:p.Lys133Asn
ENST00000675342.1:c.471G>C	ENSP00000502486.1:p.Lys157Asn
ENST00000675497.1:c.471G>C	ENSP00000502000.1:p.Lys157Asn
ENST00000675712.1:n.1655G>C
ENST00000675864.1:c.471G>C	ENSP00000502566.1:p.Lys157Asn
ENST00000676147.1:c.551G>C
ENST00000676214.1:c.471G>C	ENSP00000501618.1:p.Lys157Asn
ENST00000676425.1:c.471G>C	ENSP00000502084.1:p.Lys157Asn
ENST00000265062.7:c.471G>C	ENSP00000265062.3:p.Lys157Asn
ENST00000482525.5:c.330G>C	ENSP00000417668.1:p.Lys110Asn
ENST00000483906.5:c.252G>C	ENSP00000417155.1:p.Lys84Asn
ENST00000485280.1:c.181-5713G>C	ENSP00000418283.1:n.181-5713G>C
ENST00000490093.5:c.348G>C	ENSP00000418955.1:p.Lys116Asn
ENST00000493186.5:c.148-4G>C	ENSP00000417189.1:n.148-4G>C
NM_004637.5:c.471G>C , LRG_266t1:c.471G>C	NP_004628.4:p.Lys157Asn
XM_024453745.1:c.471G>C	XP_024309513.1:p.Lys157Asn
XR_002959582.1:n.1655G>C
XR_002959583.1:n.1583G>C
NM_004637.6:c.471G>C MANE Select	NP_004628.4:p.Lys157Asn