Canonical Allele Identifier: CA10586216

Gene: VAC14

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70698725G>A , CM000678.2:g.70698725G>A	GRCh38
NC_000016.9:g.70732628G>A , CM000678.1:g.70732628G>A	GRCh37
NC_000016.8:g.69290129G>A	NCBI36
NG_054902.1:g.107445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018052.5:c.1748C>T MANE Select	NP_060522.3:p.Ser583Leu
ENST00000261776.10:c.1748C>T MANE Select	ENSP00000261776.5:p.Ser583Leu
NM_001351157.1:c.1046C>T	NP_001338086.1:p.Ser349Leu
NM_001351157.2:c.1046C>T	NP_001338086.1:p.Ser349Leu
NM_018052.3:c.1748C>T	NP_060522.3:p.Ser583Leu
NM_018052.4:c.1748C>T	NP_060522.3:p.Ser583Leu
ENST00000261776.9:c.1748C>T	ENSP00000261776.5:p.Ser583Leu
ENST00000536184.6:c.44C>T	ENSP00000439284.2:p.Ser15Leu
ENST00000564685.5:n.436C>T
ENST00000566416.1:c.378C>T
ENST00000568548.5:c.*1474C>T	ENSP00000454650.1:n.*1474C>T
ENST00000568886.5:c.*373C>T	ENSP00000457809.1:n.*373C>T
XM_005256038.2:c.1748C>T	XP_005256095.1:p.Ser583Leu
XM_005256038.4:c.1748C>T	XP_005256095.1:p.Ser583Leu