Canonical Allele Identifier: CA2062458460

Gene: MMAB MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573255C>G , CM000674.2:g.109573255C>G	GRCh38
NC_000012.11:g.110011060C>G , CM000674.1:g.110011060C>G	GRCh37
NC_000012.10:g.108495443C>G	NCBI36
NG_007096.1:g.5243G>C
NG_007702.1:g.4561C>G , LRG_156:g.4561C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.134+92G>C (MMAB) MANE Select	NP_443077.1:n.134+92G>C
ENST00000545712.7:c.134+92G>C (MMAB) MANE Select	ENSP00000445920.1:n.134+92G>C
NM_052845.3:c.134+92G>C (MMAB)	NP_443077.1:n.134+92G>C
NR_038118.1:n.207+92G>C (MMAB)
NR_038118.2:n.158+92G>C (MMAB)
ENST00000420167.6:c.134+92G>C (MMAB)	ENSP00000416136.2:n.134+92G>C
ENST00000503497.7:c.134+92G>C (MMAB)	ENSP00000474881.1:n.134+92G>C
ENST00000536760.1:n.137+92G>C (MMAB)
ENST00000537236.2:c.134+92G>C (MMAB)	ENSP00000483818.1:n.134+92G>C
ENST00000537496.5:c.134+92G>C (MMAB)	ENSP00000444793.1:n.134+92G>C
ENST00000539335.5:c.-322C>G (MVK)	ENSP00000440379.1:n.-322C>G
ENST00000540016.5:c.134+92G>C (MMAB)	ENSP00000474582.1:n.134+92G>C
ENST00000541763.6:c.134+92G>C (MMAB)	ENSP00000474981.1:n.134+92G>C
ENST00000542390.5:n.161+92G>C (MMAB)
ENST00000544051.5:c.134+92G>C (MMAB)	ENSP00000438079.1:n.134+92G>C
ENST00000545712.6:c.134+92G>C (MMAB)	ENSP00000445920.1:n.134+92G>C
XM_024448961.1:c.134+92G>C (MMAB)	XP_024304729.1:n.134+92G>C