Canonical Allele Identifier: CA6779079

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573429G>T , CM000674.2:g.109573429G>T	GRCh38
NC_000012.11:g.110011234G>T , CM000674.1:g.110011234G>T	GRCh37
NC_000012.10:g.108495617G>T	NCBI36
NG_007096.1:g.5069C>A
NG_007702.1:g.4735G>T , LRG_156:g.4735G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.52C>A (MMAB) MANE Select	NP_443077.1:p.Leu18Met
ENST00000545712.7:c.52C>A (MMAB) MANE Select	ENSP00000445920.1:p.Leu18Met
NM_052845.3:c.52C>A (MMAB)	NP_443077.1:p.Leu18Met
NR_038118.1:n.125C>A (MMAB)
NR_038118.2:n.76C>A (MMAB)
ENST00000420167.6:c.52C>A (MMAB)	ENSP00000416136.2:p.Leu18Met
ENST00000503497.7:c.52C>A (MMAB)	ENSP00000474881.1:p.Leu18Met
ENST00000535044.1:n.89G>T (MVK)
ENST00000536760.1:n.55C>A (MMAB)
ENST00000537236.2:c.52C>A (MMAB)	ENSP00000483818.1:p.Leu18Met
ENST00000537496.5:c.52C>A (MMAB)	ENSP00000444793.1:p.Leu18Met
ENST00000539335.5:c.-148G>T (MVK)	ENSP00000440379.1:n.-148G>T
ENST00000540016.5:c.52C>A (MMAB)	ENSP00000474582.1:p.Leu18Met
ENST00000541763.6:c.52C>A (MMAB)	ENSP00000474981.1:p.Leu18Met
ENST00000542390.5:n.79C>A (MMAB)
ENST00000544051.5:c.52C>A (MMAB)	ENSP00000438079.1:p.Leu18Met
ENST00000545712.6:c.52C>A (MMAB)	ENSP00000445920.1:p.Leu18Met
ENST00000546277.5:c.-157G>T (MVK)	ENSP00000438153.1:n.-157G>T
ENST00000546277.6:c.-157G>T (MVK)	ENSP00000438153.2:n.-157G>T
XM_011538372.1:c.-157G>T (MVK)	XP_011536674.1:n.-157G>T
XM_024448961.1:c.52C>A (MMAB)	XP_024304729.1:p.Leu18Met