Canonical Allele Identifier: CA386635555

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994885T>A (hg19) ; chr12:g.109557080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557080T>A , CM000674.2:g.109557080T>A	GRCh38
NC_000012.11:g.109994885T>A , CM000674.1:g.109994885T>A	GRCh37
NC_000012.10:g.108479268T>A	NCBI36
NG_007096.1:g.21418A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.701A>T MANE Select	ENSP00000445920.1:p.Gln234Leu
ENST00000537496.5:c.*266A>T	ENSP00000444793.1:n.*266A>T
ENST00000540016.5:c.545A>T	ENSP00000474582.1:p.Gln182Leu
ENST00000541763.6:c.926A>T	ENSP00000474981.1:n.926A>T
ENST00000544051.5:c.*582A>T	ENSP00000438079.1:n.*582A>T
ENST00000545712.6:c.701A>T	ENSP00000445920.1:p.Gln234Leu
NM_052845.3:c.701A>T	NP_443077.1:p.Gln234Leu
NR_038118.1:n.861A>T
XM_011538266.1:c.*48A>T	XP_011536568.1:n.*48A>T
XM_011538267.1:c.*48A>T	XP_011536569.1:n.*48A>T
XM_011538268.1:c.428A>T	XP_011536570.1:p.Gln143Leu
XM_011538269.1:c.425A>T	XP_011536571.1:p.Gln142Leu
XM_011538267.3:c.*48A>T	XP_011536569.1:n.*48A>T
XM_011538268.2:c.428A>T	XP_011536570.1:p.Gln143Leu
XM_011538269.2:c.425A>T	XP_011536571.1:p.Gln142Leu
NM_052845.4:c.701A>T MANE Select	NP_443077.1:p.Gln234Leu
NR_038118.2:n.812A>T