Canonical Allele Identifier: CA386641394

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573418G>T , CM000674.2:g.109573418G>T	GRCh38
NC_000012.11:g.110011223G>T , CM000674.1:g.110011223G>T	GRCh37
NC_000012.10:g.108495606G>T	NCBI36
NG_007096.1:g.5080C>A
NG_007702.1:g.4724G>T , LRG_156:g.4724G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.63C>A (MMAB) MANE Select	NP_443077.1:p.Cys21Ter
ENST00000545712.7:c.63C>A (MMAB) MANE Select	ENSP00000445920.1:p.Cys21Ter
NM_052845.3:c.63C>A (MMAB)	NP_443077.1:p.Cys21Ter
NR_038118.1:n.136C>A (MMAB)
NR_038118.2:n.87C>A (MMAB)
ENST00000420167.6:c.63C>A (MMAB)	ENSP00000416136.2:p.Cys21Ter
ENST00000503497.7:c.63C>A (MMAB)	ENSP00000474881.1:p.Cys21Ter
ENST00000535044.1:n.78G>T (MVK)
ENST00000536760.1:n.66C>A (MMAB)
ENST00000537236.2:c.63C>A (MMAB)	ENSP00000483818.1:p.Cys21Ter
ENST00000537496.5:c.63C>A (MMAB)	ENSP00000444793.1:p.Cys21Ter
ENST00000539335.5:c.-159G>T (MVK)	ENSP00000440379.1:n.-159G>T
ENST00000540016.5:c.63C>A (MMAB)	ENSP00000474582.1:p.Cys21Ter
ENST00000541763.6:c.63C>A (MMAB)	ENSP00000474981.1:p.Cys21Ter
ENST00000542390.5:n.90C>A (MMAB)
ENST00000544051.5:c.63C>A (MMAB)	ENSP00000438079.1:p.Cys21Ter
ENST00000545712.6:c.63C>A (MMAB)	ENSP00000445920.1:p.Cys21Ter
ENST00000546277.5:c.-168G>T (MVK)	ENSP00000438153.1:n.-168G>T
ENST00000546277.6:c.-168G>T (MVK)	ENSP00000438153.2:n.-168G>T
XM_011538372.1:c.-168G>T (MVK)	XP_011536674.1:n.-168G>T
XM_024448961.1:c.63C>A (MMAB)	XP_024304729.1:p.Cys21Ter