Canonical Allele Identifier: CA386635560

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994886G>T (hg19) ; chr12:g.109557081G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557081G>T , CM000674.2:g.109557081G>T	GRCh38
NC_000012.11:g.109994886G>T , CM000674.1:g.109994886G>T	GRCh37
NC_000012.10:g.108479269G>T	NCBI36
NG_007096.1:g.21417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.700C>A MANE Select	ENSP00000445920.1:p.Gln234Lys
ENST00000537496.5:c.*265C>A	ENSP00000444793.1:n.*265C>A
ENST00000540016.5:c.544C>A	ENSP00000474582.1:p.Gln182Lys
ENST00000541763.6:c.925C>A	ENSP00000474981.1:n.925C>A
ENST00000544051.5:c.*581C>A	ENSP00000438079.1:n.*581C>A
ENST00000545712.6:c.700C>A	ENSP00000445920.1:p.Gln234Lys
NM_052845.3:c.700C>A	NP_443077.1:p.Gln234Lys
NR_038118.1:n.860C>A
XM_011538266.1:c.*47C>A	XP_011536568.1:n.*47C>A
XM_011538267.1:c.*47C>A	XP_011536569.1:n.*47C>A
XM_011538268.1:c.427C>A	XP_011536570.1:p.Gln143Lys
XM_011538269.1:c.424C>A	XP_011536571.1:p.Gln142Lys
XM_011538267.3:c.*47C>A	XP_011536569.1:n.*47C>A
XM_011538268.2:c.427C>A	XP_011536570.1:p.Gln143Lys
XM_011538269.2:c.424C>A	XP_011536571.1:p.Gln142Lys
NM_052845.4:c.700C>A MANE Select	NP_443077.1:p.Gln234Lys
NR_038118.2:n.811C>A