Canonical Allele Identifier: CA396589169

Gene: VAC14

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70695574C>G , CM000678.2:g.70695574C>G	GRCh38
NC_000016.9:g.70729477C>G , CM000678.1:g.70729477C>G	GRCh37
NC_000016.8:g.69286978C>G	NCBI36
NG_054902.1:g.110596G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018052.5:c.2005G>C MANE Select	NP_060522.3:p.Val669Leu
ENST00000261776.10:c.2005G>C MANE Select	ENSP00000261776.5:p.Val669Leu
NM_001351157.1:c.1303G>C	NP_001338086.1:p.Val435Leu
NM_001351157.2:c.1303G>C	NP_001338086.1:p.Val435Leu
NM_018052.3:c.2005G>C	NP_060522.3:p.Val669Leu
NM_018052.4:c.2005G>C	NP_060522.3:p.Val669Leu
ENST00000261776.9:c.2005G>C	ENSP00000261776.5:p.Val669Leu
ENST00000536184.6:c.301G>C	ENSP00000439284.2:p.Val101Leu
ENST00000564512.1:n.283G>C
ENST00000566416.1:c.551G>C
ENST00000567648.1:c.20G>C
ENST00000568548.5:c.*1731G>C	ENSP00000454650.1:n.*1731G>C
ENST00000568886.5:c.*630G>C	ENSP00000457809.1:n.*630G>C
XM_005256038.2:c.2005G>C	XP_005256095.1:p.Val669Leu
XM_005256038.4:c.2005G>C	XP_005256095.1:p.Val669Leu