Canonical Allele Identifier: CA2576091141
Gene: MVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88655136C>T , CM000678.2:g.88655136C>T GRCh38
NC_000016.9:g.88721544C>T , CM000678.1:g.88721544C>T GRCh37
NC_000016.8:g.87249045C>T NCBI36
NG_007291.1:g.914G>A , LRG_52:g.914G>A
NG_052674.1:g.13018G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301012.8:c.897+63G>A MANE Select ENSP00000301012.3:n.897+63G>A
ENST00000301012.7:c.897+63G>A ENSP00000301012.3:n.897+63G>A
ENST00000565149.5:n.1456+63G>A
ENST00000620002.4:c.380+63G>A ENSP00000479264.1:n.380+63G>A
NM_002461.2:c.897+63G>A NP_002452.1:n.897+63G>A
XM_011523086.1:c.999+63G>A XP_011521388.1:n.999+63G>A
XM_011523087.1:c.936+63G>A XP_011521389.1:n.936+63G>A
XM_011523088.1:c.834+63G>A XP_011521390.1:n.834+63G>A
XM_011523089.1:c.546+63G>A XP_011521391.1:n.546+63G>A
XM_011523086.2:c.999+63G>A XP_011521388.1:n.999+63G>A
XM_011523087.2:c.936+63G>A XP_011521389.1:n.936+63G>A
XM_011523088.2:c.834+63G>A XP_011521390.1:n.834+63G>A
XM_011523089.2:c.546+63G>A XP_011521391.1:n.546+63G>A
NM_002461.3:c.897+63G>A MANE Select NP_002452.1:n.897+63G>A