Canonical Allele Identifier: CA386635419

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994837A>G (hg19) ; chr12:g.109557032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557032A>G , CM000674.2:g.109557032A>G	GRCh38
NC_000012.11:g.109994837A>G , CM000674.1:g.109994837A>G	GRCh37
NC_000012.10:g.108479220A>G	NCBI36
NG_007096.1:g.21466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.749T>C MANE Select	ENSP00000445920.1:p.Leu250Pro
ENST00000537496.5:c.*314T>C	ENSP00000444793.1:n.*314T>C
ENST00000540016.5:c.593T>C	ENSP00000474582.1:p.Leu198Pro
ENST00000541763.6:c.974T>C	ENSP00000474981.1:n.974T>C
ENST00000544051.5:c.*630T>C	ENSP00000438079.1:n.*630T>C
ENST00000545712.6:c.749T>C	ENSP00000445920.1:p.Leu250Pro
NM_052845.3:c.749T>C	NP_443077.1:p.Leu250Pro
NR_038118.1:n.909T>C
XM_011538266.1:c.*96T>C	XP_011536568.1:n.*96T>C
XM_011538267.1:c.*96T>C	XP_011536569.1:n.*96T>C
XM_011538268.1:c.476T>C	XP_011536570.1:p.Leu159Pro
XM_011538269.1:c.473T>C	XP_011536571.1:p.Leu158Pro
XM_011538267.3:c.*96T>C	XP_011536569.1:n.*96T>C
XM_011538268.2:c.476T>C	XP_011536570.1:p.Leu159Pro
XM_011538269.2:c.473T>C	XP_011536571.1:p.Leu158Pro
NM_052845.4:c.749T>C MANE Select	NP_443077.1:p.Leu250Pro
NR_038118.2:n.860T>C