Canonical Allele Identifier: CA386635554

Gene: MMAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.701A>C MANE Select	ENSP00000445920.1:p.Gln234Pro
ENST00000537496.5:c.*266A>C	ENSP00000444793.1:n.*266A>C
ENST00000540016.5:c.545A>C	ENSP00000474582.1:p.Gln182Pro
ENST00000541763.6:c.926A>C	ENSP00000474981.1:n.926A>C
ENST00000544051.5:c.*582A>C	ENSP00000438079.1:n.*582A>C
ENST00000545712.6:c.701A>C	ENSP00000445920.1:p.Gln234Pro
NM_052845.3:c.701A>C	NP_443077.1:p.Gln234Pro
NR_038118.1:n.861A>C
XM_011538266.1:c.*48A>C	XP_011536568.1:n.*48A>C
XM_011538267.1:c.*48A>C	XP_011536569.1:n.*48A>C
XM_011538268.1:c.428A>C	XP_011536570.1:p.Gln143Pro
XM_011538269.1:c.425A>C	XP_011536571.1:p.Gln142Pro
XM_011538267.3:c.*48A>C	XP_011536569.1:n.*48A>C
XM_011538268.2:c.428A>C	XP_011536570.1:p.Gln143Pro
XM_011538269.2:c.425A>C	XP_011536571.1:p.Gln142Pro
NM_052845.4:c.701A>C MANE Select	NP_443077.1:p.Gln234Pro
NR_038118.2:n.812A>C