Canonical Allele Identifier: CA6778929

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561824G>A , CM000674.2:g.109561824G>A	GRCh38
NC_000012.11:g.109999629G>A , CM000674.1:g.109999629G>A	GRCh37
NC_000012.10:g.108484012G>A	NCBI36
NG_007096.1:g.16674C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.377C>T MANE Select	NP_443077.1:p.Ser126Leu
ENST00000545712.7:c.377C>T MANE Select	ENSP00000445920.1:p.Ser126Leu
NM_052845.3:c.377C>T	NP_443077.1:p.Ser126Leu
NR_038118.1:n.450C>T
NR_038118.2:n.401C>T
ENST00000420167.6:c.*206C>T	ENSP00000416136.2:n.*206C>T
ENST00000537496.5:c.377C>T	ENSP00000444793.1:p.Ser126Leu
ENST00000540016.5:c.221C>T	ENSP00000474582.1:p.Ser74Leu
ENST00000541763.6:c.377C>T	ENSP00000474981.1:p.Ser126Leu
ENST00000542390.5:n.404C>T
ENST00000544051.5:c.*171C>T	ENSP00000438079.1:n.*171C>T
ENST00000545712.6:c.377C>T	ENSP00000445920.1:p.Ser126Leu
XM_011538266.1:c.135C>T	XP_011536568.1:p.Leu45=
XM_011538267.1:c.135C>T	XP_011536569.1:p.Leu45=
XM_011538267.3:c.135C>T	XP_011536569.1:p.Leu45=
XM_011538268.1:c.104C>T	XP_011536570.1:p.Ser35Leu
XM_011538268.2:c.104C>T	XP_011536570.1:p.Ser35Leu
XM_011538269.1:c.101C>T	XP_011536571.1:p.Ser34Leu
XM_011538269.2:c.101C>T	XP_011536571.1:p.Ser34Leu
XM_024448961.1:c.377C>T	XP_024304729.1:p.Ser126Leu