Canonical Allele Identifier: CA354708815

Gene: RAB7A

Linked Data

• MyVariant Identifiers: chr3:g.128525326A>C (hg19) ; chr3:g.128806483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128806483A>C , CM000665.2:g.128806483A>C	GRCh38
NC_000003.11:g.128525326A>C , CM000665.1:g.128525326A>C	GRCh37
NC_000003.10:g.130008016A>C	NCBI36
NG_008070.1:g.85348A>C , LRG_266:g.85348A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265062.8:c.292A>C MANE Select	ENSP00000265062.3:p.Thr98Pro
ENST00000490093.6:c.292A>C	ENSP00000418955.2:p.Thr98Pro
ENST00000493186.6:c.148-1135A>C	ENSP00000417189.1:n.148-1135A>C
ENST00000674589.1:c.292A>C	ENSP00000502088.1:p.Thr98Pro
ENST00000674593.1:n.290A>C
ENST00000674748.1:c.220A>C	ENSP00000502224.1:p.Thr74Pro
ENST00000675342.1:c.292A>C	ENSP00000502486.1:p.Thr98Pro
ENST00000675497.1:c.292A>C	ENSP00000502000.1:p.Thr98Pro
ENST00000675712.1:n.524A>C
ENST00000675864.1:c.292A>C	ENSP00000502566.1:p.Thr98Pro
ENST00000676147.1:c.372A>C
ENST00000676214.1:c.292A>C	ENSP00000501618.1:p.Thr98Pro
ENST00000676425.1:c.292A>C	ENSP00000502084.1:p.Thr98Pro
ENST00000265062.7:c.292A>C	ENSP00000265062.3:p.Thr98Pro
ENST00000464496.5:c.292A>C	ENSP00000417978.1:p.Thr98Pro
ENST00000482525.5:c.258+34A>C	ENSP00000417668.1:n.258+34A>C
ENST00000483906.5:c.181-1060A>C	ENSP00000417155.1:n.181-1060A>C
ENST00000485280.1:c.181-6844A>C	ENSP00000418283.1:n.181-6844A>C
ENST00000490093.5:c.284+8A>C	ENSP00000418955.1:n.284+8A>C
ENST00000493186.5:c.148-1135A>C	ENSP00000417189.1:n.148-1135A>C
NM_004637.5:c.292A>C , LRG_266t1:c.292A>C	NP_004628.4:p.Thr98Pro
XM_024453745.1:c.292A>C	XP_024309513.1:p.Thr98Pro
XR_002959582.1:n.524A>C
XR_002959583.1:n.452A>C
NM_004637.6:c.292A>C MANE Select	NP_004628.4:p.Thr98Pro