Canonical Allele Identifier: CA354708820

Gene: RAB7A

Linked Data

• dbSNP Id: rs1359173081
• gnomAD v2: 3-128525327-C-G
• MyVariant Identifiers: chr3:g.128525327C>G (hg19) ; chr3:g.128806484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806484C>G , CM000665.2:g.128806484C>G	GRCh38
NC_000003.11:g.128525327C>G , CM000665.1:g.128525327C>G	GRCh37
NC_000003.10:g.130008017C>G	NCBI36
NG_008070.1:g.85349C>G , LRG_266:g.85349C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265062.8:c.293C>G MANE Select	ENSP00000265062.3:p.Thr98Ser
ENST00000490093.6:c.293C>G	ENSP00000418955.2:p.Thr98Ser
ENST00000493186.6:c.148-1134C>G	ENSP00000417189.1:n.148-1134C>G
ENST00000674589.1:c.293C>G	ENSP00000502088.1:p.Thr98Ser
ENST00000674593.1:n.291C>G
ENST00000674748.1:c.221C>G	ENSP00000502224.1:p.Thr74Ser
ENST00000675342.1:c.293C>G	ENSP00000502486.1:p.Thr98Ser
ENST00000675497.1:c.293C>G	ENSP00000502000.1:p.Thr98Ser
ENST00000675712.1:n.525C>G
ENST00000675864.1:c.293C>G	ENSP00000502566.1:p.Thr98Ser
ENST00000676147.1:c.373C>G
ENST00000676214.1:c.293C>G	ENSP00000501618.1:p.Thr98Ser
ENST00000676425.1:c.293C>G	ENSP00000502084.1:p.Thr98Ser
ENST00000265062.7:c.293C>G	ENSP00000265062.3:p.Thr98Ser
ENST00000464496.5:c.293C>G	ENSP00000417978.1:p.Thr98Ser
ENST00000482525.5:c.258+35C>G	ENSP00000417668.1:n.258+35C>G
ENST00000483906.5:c.181-1059C>G	ENSP00000417155.1:n.181-1059C>G
ENST00000485280.1:c.181-6843C>G	ENSP00000418283.1:n.181-6843C>G
ENST00000490093.5:c.284+9C>G	ENSP00000418955.1:n.284+9C>G
ENST00000493186.5:c.148-1134C>G	ENSP00000417189.1:n.148-1134C>G
NM_004637.5:c.293C>G , LRG_266t1:c.293C>G	NP_004628.4:p.Thr98Ser
XM_024453745.1:c.293C>G	XP_024309513.1:p.Thr98Ser
XR_002959582.1:n.525C>G
XR_002959583.1:n.453C>G
NM_004637.6:c.293C>G MANE Select	NP_004628.4:p.Thr98Ser