Canonical Allele Identifier: CA6778754

Gene: MMAB

Linked Data

• dbSNP Id: rs757959574
• ExAC: 12:109994858 G / A
• gnomAD v2: 12-109994858-G-A
• gnomAD v4: 12-109557053-G-A
• MyVariant Identifiers: chr12:g.109994858G>A (hg19) ; chr12:g.109557053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557053G>A , CM000674.2:g.109557053G>A	GRCh38
NC_000012.11:g.109994858G>A , CM000674.1:g.109994858G>A	GRCh37
NC_000012.10:g.108479241G>A	NCBI36
NG_007096.1:g.21445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.728C>T MANE Select	ENSP00000445920.1:p.Pro243Leu
ENST00000537496.5:c.*293C>T	ENSP00000444793.1:n.*293C>T
ENST00000540016.5:c.572C>T	ENSP00000474582.1:p.Pro191Leu
ENST00000541763.6:c.953C>T	ENSP00000474981.1:n.953C>T
ENST00000544051.5:c.*609C>T	ENSP00000438079.1:n.*609C>T
ENST00000545712.6:c.728C>T	ENSP00000445920.1:p.Pro243Leu
NM_052845.3:c.728C>T	NP_443077.1:p.Pro243Leu
NR_038118.1:n.888C>T
XM_011538266.1:c.*75C>T	XP_011536568.1:n.*75C>T
XM_011538267.1:c.*75C>T	XP_011536569.1:n.*75C>T
XM_011538268.1:c.455C>T	XP_011536570.1:p.Pro152Leu
XM_011538269.1:c.452C>T	XP_011536571.1:p.Pro151Leu
XM_011538267.3:c.*75C>T	XP_011536569.1:n.*75C>T
XM_011538268.2:c.455C>T	XP_011536570.1:p.Pro152Leu
XM_011538269.2:c.452C>T	XP_011536571.1:p.Pro151Leu
NM_052845.4:c.728C>T MANE Select	NP_443077.1:p.Pro243Leu
NR_038118.2:n.839C>T