Canonical Allele Identifier: CA2600799

Gene: RAB7A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806443C>T , CM000665.2:g.128806443C>T	GRCh38
NC_000003.11:g.128525286C>T , CM000665.1:g.128525286C>T	GRCh37
NC_000003.10:g.130007976C>T	NCBI36
NG_008070.1:g.85308C>T , LRG_266:g.85308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004637.6:c.252C>T MANE Select	NP_004628.4:p.Cys84=
ENST00000265062.8:c.252C>T MANE Select	ENSP00000265062.3:p.Cys84=
NM_004637.5:c.252C>T , LRG_266t1:c.252C>T	NP_004628.4:p.Cys84=
ENST00000265062.7:c.252C>T	ENSP00000265062.3:p.Cys84=
ENST00000464496.5:c.252C>T	ENSP00000417978.1:p.Cys84=
ENST00000482525.5:c.252C>T	ENSP00000417668.1:p.Cys84=
ENST00000483906.5:c.181-1100C>T	ENSP00000417155.1:n.181-1100C>T
ENST00000485280.1:c.181-6884C>T	ENSP00000418283.1:n.181-6884C>T
ENST00000490093.5:c.252C>T	ENSP00000418955.1:p.Cys84=
ENST00000490093.6:c.252C>T	ENSP00000418955.2:p.Cys84=
ENST00000493186.5:c.148-1175C>T	ENSP00000417189.1:n.148-1175C>T
ENST00000493186.6:c.148-1175C>T	ENSP00000417189.1:n.148-1175C>T
ENST00000674589.1:c.252C>T	ENSP00000502088.1:p.Cys84=
ENST00000674593.1:n.250C>T
ENST00000674748.1:c.180C>T	ENSP00000502224.1:p.Cys60=
ENST00000675342.1:c.252C>T	ENSP00000502486.1:p.Cys84=
ENST00000675497.1:c.252C>T	ENSP00000502000.1:p.Cys84=
ENST00000675712.1:n.484C>T
ENST00000675864.1:c.252C>T	ENSP00000502566.1:p.Cys84=
ENST00000676147.1:c.332C>T
ENST00000676214.1:c.252C>T	ENSP00000501618.1:p.Cys84=
ENST00000676425.1:c.252C>T	ENSP00000502084.1:p.Cys84=
XM_024453745.1:c.252C>T	XP_024309513.1:p.Cys84=
XR_002959582.1:n.484C>T
XR_002959583.1:n.412C>T