Canonical Allele Identifier: CA386636225

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559136T>C , CM000674.2:g.109559136T>C	GRCh38
NC_000012.11:g.109996941T>C , CM000674.1:g.109996941T>C	GRCh37
NC_000012.10:g.108481324T>C	NCBI36
NG_007096.1:g.19362A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.604A>G MANE Select	NP_443077.1:p.Met202Val
ENST00000545712.7:c.604A>G MANE Select	ENSP00000445920.1:p.Met202Val
NM_052845.3:c.604A>G	NP_443077.1:p.Met202Val
NR_038118.1:n.764A>G
NR_038118.2:n.715A>G
ENST00000537496.5:c.*169A>G	ENSP00000444793.1:n.*169A>G
ENST00000540016.5:c.448A>G	ENSP00000474582.1:p.Met150Val
ENST00000541763.6:c.829A>G	ENSP00000474981.1:n.829A>G
ENST00000544051.5:c.*485A>G	ENSP00000438079.1:n.*485A>G
ENST00000545712.6:c.604A>G	ENSP00000445920.1:p.Met202Val
XM_011538266.1:c.449A>G	XP_011536568.1:p.Asp150Gly
XM_011538267.1:c.449A>G	XP_011536569.1:p.Asp150Gly
XM_011538267.3:c.449A>G	XP_011536569.1:p.Asp150Gly
XM_011538268.1:c.331A>G	XP_011536570.1:p.Met111Val
XM_011538268.2:c.331A>G	XP_011536570.1:p.Met111Val
XM_011538269.1:c.328A>G	XP_011536571.1:p.Met110Val
XM_011538269.2:c.328A>G	XP_011536571.1:p.Met110Val
XM_024448961.1:c.604A>G	XP_024304729.1:p.Met202Val