Canonical Allele Identifier: CA8229163

Gene: MVD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88663006C>T , CM000678.2:g.88663006C>T	GRCh38
NC_000016.9:g.88729414C>T , CM000678.1:g.88729414C>T	GRCh37
NC_000016.8:g.87256915C>T	NCBI36
NG_052674.1:g.5148G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002461.3:c.70+5G>A MANE Select	NP_002452.1:n.70+5G>A
ENST00000301012.8:c.70+5G>A MANE Select	ENSP00000301012.3:n.70+5G>A
NM_002461.2:c.70+5G>A	NP_002452.1:n.70+5G>A
ENST00000301012.7:c.70+5G>A	ENSP00000301012.3:n.70+5G>A
ENST00000562741.1:n.151+5G>A
ENST00000563170.5:n.55+5G>A
ENST00000563463.1:n.69+5G>A
ENST00000563785.5:n.84+5G>A
ENST00000565610.5:c.70+5G>A	ENSP00000456465.1:n.70+5G>A
ENST00000565842.1:n.36+5G>A
ENST00000567064.5:c.70+5G>A	ENSP00000458049.1:n.70+5G>A
ENST00000568133.5:c.70+5G>A	ENSP00000455602.1:n.70+5G>A
ENST00000568709.5:n.19+5G>A
ENST00000569177.5:c.70+5G>A	ENSP00000455131.1:n.70+5G>A
ENST00000620002.4:c.-444+5G>A	ENSP00000479264.1:n.-444+5G>A
XM_011523086.1:c.70+5G>A	XP_011521388.1:n.70+5G>A
XM_011523086.2:c.70+5G>A	XP_011521388.1:n.70+5G>A
XM_011523087.1:c.-64+5G>A	XP_011521389.1:n.-64+5G>A
XM_011523087.2:c.-64+5G>A	XP_011521389.1:n.-64+5G>A
XM_011523088.1:c.-64+5G>A	XP_011521390.1:n.-64+5G>A
XM_011523088.2:c.-64+5G>A	XP_011521390.1:n.-64+5G>A
XM_011523089.1:c.-572+5G>A	XP_011521391.1:n.-572+5G>A
XM_011523089.2:c.-572+5G>A	XP_011521391.1:n.-572+5G>A
XM_011523090.1:c.70+5G>A	XP_011521392.1:n.70+5G>A