Canonical Allele Identifier: CA386635781

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994937T>A (hg19) ; chr12:g.109557132T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557132T>A , CM000674.2:g.109557132T>A	GRCh38
NC_000012.11:g.109994937T>A , CM000674.1:g.109994937T>A	GRCh37
NC_000012.10:g.108479320T>A	NCBI36
NG_007096.1:g.21366A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.649A>T MANE Select	ENSP00000445920.1:p.Ser217Cys
ENST00000537496.5:c.*214A>T	ENSP00000444793.1:n.*214A>T
ENST00000540016.5:c.493A>T	ENSP00000474582.1:p.Ser165Cys
ENST00000541763.6:c.874A>T	ENSP00000474981.1:n.874A>T
ENST00000544051.5:c.*530A>T	ENSP00000438079.1:n.*530A>T
ENST00000545712.6:c.649A>T	ENSP00000445920.1:p.Ser217Cys
NM_052845.3:c.649A>T	NP_443077.1:p.Ser217Cys
NR_038118.1:n.809A>T
XM_011538266.1:c.494A>T	XP_011536568.1:p.Gln165Leu
XM_011538267.1:c.494A>T	XP_011536569.1:p.Gln165Leu
XM_011538268.1:c.376A>T	XP_011536570.1:p.Ser126Cys
XM_011538269.1:c.373A>T	XP_011536571.1:p.Ser125Cys
XM_011538267.3:c.494A>T	XP_011536569.1:p.Gln165Leu
XM_011538268.2:c.376A>T	XP_011536570.1:p.Ser126Cys
XM_011538269.2:c.373A>T	XP_011536571.1:p.Ser125Cys
NM_052845.4:c.649A>T MANE Select	NP_443077.1:p.Ser217Cys
NR_038118.2:n.760A>T