Canonical Allele Identifier: CA8147536

Gene: VAC14

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70698750G>A , CM000678.2:g.70698750G>A	GRCh38
NC_000016.9:g.70732653G>A , CM000678.1:g.70732653G>A	GRCh37
NC_000016.8:g.69290154G>A	NCBI36
NG_054902.1:g.107420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018052.5:c.1723C>T MANE Select	NP_060522.3:p.Arg575Trp
ENST00000261776.10:c.1723C>T MANE Select	ENSP00000261776.5:p.Arg575Trp
NM_001351157.1:c.1021C>T	NP_001338086.1:p.Arg341Trp
NM_001351157.2:c.1021C>T	NP_001338086.1:p.Arg341Trp
NM_018052.3:c.1723C>T	NP_060522.3:p.Arg575Trp
NM_018052.4:c.1723C>T	NP_060522.3:p.Arg575Trp
ENST00000261776.9:c.1723C>T	ENSP00000261776.5:p.Arg575Trp
ENST00000536184.6:c.19C>T	ENSP00000439284.2:p.Arg7Trp
ENST00000564685.5:n.411C>T
ENST00000566416.1:c.353C>T
ENST00000568548.5:c.*1449C>T	ENSP00000454650.1:n.*1449C>T
ENST00000568886.5:c.*348C>T	ENSP00000457809.1:n.*348C>T
XM_005256038.2:c.1723C>T	XP_005256095.1:p.Arg575Trp
XM_005256038.4:c.1723C>T	XP_005256095.1:p.Arg575Trp