Canonical Allele Identifier: CA386635634

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994903G>A (hg19) ; chr12:g.109557098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557098G>A , CM000674.2:g.109557098G>A	GRCh38
NC_000012.11:g.109994903G>A , CM000674.1:g.109994903G>A	GRCh37
NC_000012.10:g.108479286G>A	NCBI36
NG_007096.1:g.21400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.683C>T MANE Select	ENSP00000445920.1:p.Ala228Val
ENST00000537496.5:c.*248C>T	ENSP00000444793.1:n.*248C>T
ENST00000540016.5:c.527C>T	ENSP00000474582.1:p.Ala176Val
ENST00000541763.6:c.908C>T	ENSP00000474981.1:n.908C>T
ENST00000544051.5:c.*564C>T	ENSP00000438079.1:n.*564C>T
ENST00000545712.6:c.683C>T	ENSP00000445920.1:p.Ala228Val
NM_052845.3:c.683C>T	NP_443077.1:p.Ala228Val
NR_038118.1:n.843C>T
XM_011538266.1:c.*30C>T	XP_011536568.1:n.*30C>T
XM_011538267.1:c.*30C>T	XP_011536569.1:n.*30C>T
XM_011538268.1:c.410C>T	XP_011536570.1:p.Ala137Val
XM_011538269.1:c.407C>T	XP_011536571.1:p.Ala136Val
XM_011538267.3:c.*30C>T	XP_011536569.1:n.*30C>T
XM_011538268.2:c.410C>T	XP_011536570.1:p.Ala137Val
XM_011538269.2:c.407C>T	XP_011536571.1:p.Ala136Val
NM_052845.4:c.683C>T MANE Select	NP_443077.1:p.Ala228Val
NR_038118.2:n.794C>T