Canonical Allele Identifier: CA2241206745

Gene: MVD

Linked Data

• dbSNP Id: rs888958451
• gnomAD v4: 16-88655123-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88655123G>A , CM000678.2:g.88655123G>A	GRCh38
NC_000016.9:g.88721531G>A , CM000678.1:g.88721531G>A	GRCh37
NC_000016.8:g.87249032G>A	NCBI36
NG_007291.1:g.927C>T , LRG_52:g.927C>T
NG_052674.1:g.13031C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301012.8:c.897+76C>T MANE Select	ENSP00000301012.3:n.897+76C>T
ENST00000301012.7:c.897+76C>T	ENSP00000301012.3:n.897+76C>T
ENST00000565149.5:n.1456+76C>T
ENST00000620002.4:c.380+76C>T	ENSP00000479264.1:n.380+76C>T
NM_002461.2:c.897+76C>T	NP_002452.1:n.897+76C>T
XM_011523086.1:c.999+76C>T	XP_011521388.1:n.999+76C>T
XM_011523087.1:c.936+76C>T	XP_011521389.1:n.936+76C>T
XM_011523088.1:c.834+76C>T	XP_011521390.1:n.834+76C>T
XM_011523089.1:c.546+76C>T	XP_011521391.1:n.546+76C>T
XM_011523086.2:c.999+76C>T	XP_011521388.1:n.999+76C>T
XM_011523087.2:c.936+76C>T	XP_011521389.1:n.936+76C>T
XM_011523088.2:c.834+76C>T	XP_011521390.1:n.834+76C>T
XM_011523089.2:c.546+76C>T	XP_011521391.1:n.546+76C>T
NM_002461.3:c.897+76C>T MANE Select	NP_002452.1:n.897+76C>T