Canonical Allele Identifier: CA386635775

Gene: MMAB

Linked Data

• ClinVar Variation Id: 1174001
• ClinVar RCV Id: RCV001527456
• dbSNP Id: rs2136192612
• MyVariant Identifiers: chr12:g.109994936C>A (hg19) ; chr12:g.109557131C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557131C>A , CM000674.2:g.109557131C>A	GRCh38
NC_000012.11:g.109994936C>A , CM000674.1:g.109994936C>A	GRCh37
NC_000012.10:g.108479319C>A	NCBI36
NG_007096.1:g.21367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.650G>T MANE Select	ENSP00000445920.1:p.Ser217Ile
ENST00000537496.5:c.*215G>T	ENSP00000444793.1:n.*215G>T
ENST00000540016.5:c.494G>T	ENSP00000474582.1:p.Ser165Ile
ENST00000541763.6:c.875G>T	ENSP00000474981.1:n.875G>T
ENST00000544051.5:c.*531G>T	ENSP00000438079.1:n.*531G>T
ENST00000545712.6:c.650G>T	ENSP00000445920.1:p.Ser217Ile
NM_052845.3:c.650G>T	NP_443077.1:p.Ser217Ile
NR_038118.1:n.810G>T
XM_011538266.1:c.495G>T	XP_011536568.1:p.Gln165His
XM_011538267.1:c.495G>T	XP_011536569.1:p.Gln165His
XM_011538268.1:c.377G>T	XP_011536570.1:p.Ser126Ile
XM_011538269.1:c.374G>T	XP_011536571.1:p.Ser125Ile
XM_011538267.3:c.495G>T	XP_011536569.1:p.Gln165His
XM_011538268.2:c.377G>T	XP_011536570.1:p.Ser126Ile
XM_011538269.2:c.374G>T	XP_011536571.1:p.Ser125Ile
NM_052845.4:c.650G>T MANE Select	NP_443077.1:p.Ser217Ile
NR_038118.2:n.761G>T