Canonical Allele Identifier: CA4643497

Gene: VPS37A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17280101A>C , CM000670.2:g.17280101A>C	GRCh38
NC_000008.10:g.17137610A>C , CM000670.1:g.17137610A>C	GRCh37
NC_000008.9:g.17181981A>C	NCBI36
NG_032996.1:g.38210A>C
NG_032996.2:g.38210A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152415.3:c.787A>C MANE Select	NP_689628.2:p.Lys263Gln
ENST00000324849.9:c.787A>C MANE Select	ENSP00000318629.4:p.Lys263Gln
NM_001145152.1:c.712A>C	NP_001138624.1:p.Lys238Gln
NM_001145152.2:c.712A>C	NP_001138624.1:p.Lys238Gln
NM_001363167.1:c.787A>C	NP_001350096.1:p.Lys263Gln
NM_001363168.1:c.517A>C	NP_001350097.1:p.Lys173Gln
NM_001363169.1:c.517A>C	NP_001350098.1:p.Lys173Gln
NM_001363170.1:c.517A>C	NP_001350099.1:p.Lys173Gln
NM_001363171.1:c.517A>C	NP_001350100.1:p.Lys173Gln
NM_001363172.1:c.517A>C	NP_001350101.1:p.Lys173Gln
NM_001363172.2:c.517A>C	NP_001350101.1:p.Lys173Gln
NM_001363173.1:c.787A>C	NP_001350102.1:p.Lys263Gln
NM_001363173.2:c.787A>C	NP_001350102.1:p.Lys263Gln
NM_152415.2:c.787A>C	NP_689628.2:p.Lys263Gln
ENST00000324849.8:c.787A>C	ENSP00000318629.4:p.Lys263Gln
ENST00000425020.6:c.*257A>C	ENSP00000412824.2:n.*257A>C
ENST00000520140.5:c.*139A>C	ENSP00000428823.1:n.*139A>C
ENST00000521829.5:c.712A>C	ENSP00000429680.1:p.Lys238Gln
ENST00000521976.1:c.106A>C	ENSP00000429858.1:p.Lys36Gln
XM_005273400.2:c.517A>C	XP_005273457.1:p.Lys173Gln
XM_005273401.2:c.517A>C	XP_005273458.1:p.Lys173Gln
XM_006716286.1:c.787A>C	XP_006716349.1:p.Lys263Gln
XM_017013021.2:c.787A>C	XP_016868510.1:p.Lys263Gln
XR_002956593.1:n.1105A>C
XR_002956594.1:n.1054A>C
XR_002956595.1:n.1105A>C
XR_002956596.1:n.1150A>C
XR_002956597.1:n.1096A>C
XR_002956598.1:n.1105A>C
XR_002956599.1:n.146A>C