Canonical Allele Identifier: CA2575285374

Gene: MMAB

Linked Data

• gnomAD v4: 12-109556996-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556996A>G , CM000674.2:g.109556996A>G	GRCh38
NC_000012.11:g.109994801A>G , CM000674.1:g.109994801A>G	GRCh37
NC_000012.10:g.108479184A>G	NCBI36
NG_007096.1:g.21502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*32T>C MANE Select	ENSP00000445920.1:n.*32T>C
ENST00000537496.5:c.*350T>C	ENSP00000444793.1:n.*350T>C
ENST00000540016.5:c.*32T>C	ENSP00000474582.1:n.*32T>C
ENST00000541763.6:c.1010T>C	ENSP00000474981.1:n.1010T>C
ENST00000544051.5:c.*666T>C	ENSP00000438079.1:n.*666T>C
ENST00000545712.6:c.*32T>C	ENSP00000445920.1:n.*32T>C
NM_052845.3:c.*32T>C	NP_443077.1:n.*32T>C
NR_038118.1:n.945T>C
XM_011538266.1:c.*132T>C	XP_011536568.1:n.*132T>C
XM_011538267.1:c.*132T>C	XP_011536569.1:n.*132T>C
XM_011538268.1:c.*32T>C	XP_011536570.1:n.*32T>C
XM_011538269.1:c.*32T>C	XP_011536571.1:n.*32T>C
XM_011538267.3:c.*132T>C	XP_011536569.1:n.*132T>C
XM_011538268.2:c.*32T>C	XP_011536570.1:n.*32T>C
XM_011538269.2:c.*32T>C	XP_011536571.1:n.*32T>C
NM_052845.4:c.*32T>C MANE Select	NP_443077.1:n.*32T>C
NR_038118.2:n.896T>C