Canonical Allele Identifier: CA386635508

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994866T>G (hg19) ; chr12:g.109557061T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557061T>G , CM000674.2:g.109557061T>G	GRCh38
NC_000012.11:g.109994866T>G , CM000674.1:g.109994866T>G	GRCh37
NC_000012.10:g.108479249T>G	NCBI36
NG_007096.1:g.21437A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.720A>C MANE Select	ENSP00000445920.1:p.Lys240Asn
ENST00000537496.5:c.*285A>C	ENSP00000444793.1:n.*285A>C
ENST00000540016.5:c.564A>C	ENSP00000474582.1:p.Lys188Asn
ENST00000541763.6:c.945A>C	ENSP00000474981.1:n.945A>C
ENST00000544051.5:c.*601A>C	ENSP00000438079.1:n.*601A>C
ENST00000545712.6:c.720A>C	ENSP00000445920.1:p.Lys240Asn
NM_052845.3:c.720A>C	NP_443077.1:p.Lys240Asn
NR_038118.1:n.880A>C
XM_011538266.1:c.*67A>C	XP_011536568.1:n.*67A>C
XM_011538267.1:c.*67A>C	XP_011536569.1:n.*67A>C
XM_011538268.1:c.447A>C	XP_011536570.1:p.Lys149Asn
XM_011538269.1:c.444A>C	XP_011536571.1:p.Lys148Asn
XM_011538267.3:c.*67A>C	XP_011536569.1:n.*67A>C
XM_011538268.2:c.447A>C	XP_011536570.1:p.Lys149Asn
XM_011538269.2:c.444A>C	XP_011536571.1:p.Lys148Asn
NM_052845.4:c.720A>C MANE Select	NP_443077.1:p.Lys240Asn
NR_038118.2:n.831A>C