Canonical Allele Identifier: CA386641095

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573345A>T , CM000674.2:g.109573345A>T	GRCh38
NC_000012.11:g.110011150A>T , CM000674.1:g.110011150A>T	GRCh37
NC_000012.10:g.108495533A>T	NCBI36
NG_007096.1:g.5153T>A
NG_007702.1:g.4651A>T , LRG_156:g.4651A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.134+2T>A (MMAB) MANE Select	NP_443077.1:n.134+2T>A
ENST00000545712.7:c.134+2T>A (MMAB) MANE Select	ENSP00000445920.1:n.134+2T>A
NM_052845.3:c.134+2T>A (MMAB)	NP_443077.1:n.134+2T>A
NR_038118.1:n.207+2T>A (MMAB)
NR_038118.2:n.158+2T>A (MMAB)
ENST00000420167.6:c.134+2T>A (MMAB)	ENSP00000416136.2:n.134+2T>A
ENST00000503497.7:c.134+2T>A (MMAB)	ENSP00000474881.1:n.134+2T>A
ENST00000535044.1:n.5A>T (MVK)
ENST00000536760.1:n.137+2T>A (MMAB)
ENST00000537236.2:c.134+2T>A (MMAB)	ENSP00000483818.1:n.134+2T>A
ENST00000537496.5:c.134+2T>A (MMAB)	ENSP00000444793.1:n.134+2T>A
ENST00000539335.5:c.-232A>T (MVK)	ENSP00000440379.1:n.-232A>T
ENST00000540016.5:c.134+2T>A (MMAB)	ENSP00000474582.1:n.134+2T>A
ENST00000541763.6:c.134+2T>A (MMAB)	ENSP00000474981.1:n.134+2T>A
ENST00000542390.5:n.161+2T>A (MMAB)
ENST00000544051.5:c.134+2T>A (MMAB)	ENSP00000438079.1:n.134+2T>A
ENST00000545712.6:c.134+2T>A (MMAB)	ENSP00000445920.1:n.134+2T>A
ENST00000546277.5:c.-241A>T (MVK)	ENSP00000438153.1:n.-241A>T
ENST00000546277.6:c.-241A>T (MVK)	ENSP00000438153.2:n.-241A>T
XM_024448961.1:c.134+2T>A (MMAB)	XP_024304729.1:n.134+2T>A