Canonical Allele Identifier: CA10586215
Community Standard Title: NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser)
Gene: VAC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70698729C>A , CM000678.2:g.70698729C>A GRCh38
NC_000016.9:g.70732632C>A , CM000678.1:g.70732632C>A GRCh37
NC_000016.8:g.69290133C>A NCBI36
NG_054902.1:g.107441G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018052.5:c.1744G>T MANE Select NP_060522.3:p.Ala582Ser
ENST00000261776.10:c.1744G>T MANE Select ENSP00000261776.5:p.Ala582Ser
NM_001351157.1:c.1042G>T NP_001338086.1:p.Ala348Ser
NM_001351157.2:c.1042G>T NP_001338086.1:p.Ala348Ser
NM_018052.3:c.1744G>T NP_060522.3:p.Ala582Ser
NM_018052.4:c.1744G>T NP_060522.3:p.Ala582Ser
ENST00000261776.9:c.1744G>T ENSP00000261776.5:p.Ala582Ser
ENST00000536184.6:c.40G>T ENSP00000439284.2:p.Ala14Ser
ENST00000564685.5:n.432G>T
ENST00000566416.1:c.374G>T
ENST00000568548.5:c.*1470G>T ENSP00000454650.1:n.*1470G>T
ENST00000568886.5:c.*369G>T ENSP00000457809.1:n.*369G>T
XM_005256038.2:c.1744G>T XP_005256095.1:p.Ala582Ser
XM_005256038.4:c.1744G>T XP_005256095.1:p.Ala582Ser