Canonical Allele Identifier: CA386636929

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109998876A>T (hg19) ; chr12:g.109561071A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561071A>T , CM000674.2:g.109561071A>T	GRCh38
NC_000012.11:g.109998876A>T , CM000674.1:g.109998876A>T	GRCh37
NC_000012.10:g.108483259A>T	NCBI36
NG_007096.1:g.17427T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.553T>A MANE Select	ENSP00000445920.1:p.Cys185Ser
ENST00000537496.5:c.*118T>A	ENSP00000444793.1:n.*118T>A
ENST00000540016.5:c.397T>A	ENSP00000474582.1:p.Cys133Ser
ENST00000541763.6:c.778T>A	ENSP00000474981.1:n.778T>A
ENST00000544051.5:c.*434T>A	ENSP00000438079.1:n.*434T>A
ENST00000545712.6:c.553T>A	ENSP00000445920.1:p.Cys185Ser
NM_052845.3:c.553T>A	NP_443077.1:p.Cys185Ser
NR_038118.1:n.713T>A
XM_011538266.1:c.398T>A	XP_011536568.1:p.Leu133Gln
XM_011538267.1:c.398T>A	XP_011536569.1:p.Leu133Gln
XM_011538268.1:c.280T>A	XP_011536570.1:p.Cys94Ser
XM_011538269.1:c.277T>A	XP_011536571.1:p.Cys93Ser
XM_011538267.3:c.398T>A	XP_011536569.1:p.Leu133Gln
XM_011538268.2:c.280T>A	XP_011536570.1:p.Cys94Ser
XM_011538269.2:c.277T>A	XP_011536571.1:p.Cys93Ser
XM_024448961.1:c.553T>A	XP_024304729.1:p.Cys185Ser
NM_052845.4:c.553T>A MANE Select	NP_443077.1:p.Cys185Ser
NR_038118.2:n.664T>A