Canonical Allele Identifier: CA386635603

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994896C>A (hg19) ; chr12:g.109557091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557091C>A , CM000674.2:g.109557091C>A	GRCh38
NC_000012.11:g.109994896C>A , CM000674.1:g.109994896C>A	GRCh37
NC_000012.10:g.108479279C>A	NCBI36
NG_007096.1:g.21407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.690G>T MANE Select	ENSP00000445920.1:p.Lys230Asn
ENST00000537496.5:c.*255G>T	ENSP00000444793.1:n.*255G>T
ENST00000540016.5:c.534G>T	ENSP00000474582.1:p.Lys178Asn
ENST00000541763.6:c.915G>T	ENSP00000474981.1:n.915G>T
ENST00000544051.5:c.*571G>T	ENSP00000438079.1:n.*571G>T
ENST00000545712.6:c.690G>T	ENSP00000445920.1:p.Lys230Asn
NM_052845.3:c.690G>T	NP_443077.1:p.Lys230Asn
NR_038118.1:n.850G>T
XM_011538266.1:c.*37G>T	XP_011536568.1:n.*37G>T
XM_011538267.1:c.*37G>T	XP_011536569.1:n.*37G>T
XM_011538268.1:c.417G>T	XP_011536570.1:p.Lys139Asn
XM_011538269.1:c.414G>T	XP_011536571.1:p.Lys138Asn
XM_011538267.3:c.*37G>T	XP_011536569.1:n.*37G>T
XM_011538268.2:c.417G>T	XP_011536570.1:p.Lys139Asn
XM_011538269.2:c.414G>T	XP_011536571.1:p.Lys138Asn
NM_052845.4:c.690G>T MANE Select	NP_443077.1:p.Lys230Asn
NR_038118.2:n.801G>T