Canonical Allele Identifier: CA386635521

Gene: MMAB

Linked Data

• dbSNP Id: rs1422285746
• gnomAD v3: 12-109557066-T-G
• gnomAD v4: 12-109557066-T-G
• MyVariant Identifiers: chr12:g.109994871T>G (hg19) ; chr12:g.109557066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557066T>G , CM000674.2:g.109557066T>G	GRCh38
NC_000012.11:g.109994871T>G , CM000674.1:g.109994871T>G	GRCh37
NC_000012.10:g.108479254T>G	NCBI36
NG_007096.1:g.21432A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.715A>C MANE Select	ENSP00000445920.1:p.Met239Leu
ENST00000537496.5:c.*280A>C	ENSP00000444793.1:n.*280A>C
ENST00000540016.5:c.559A>C	ENSP00000474582.1:p.Met187Leu
ENST00000541763.6:c.940A>C	ENSP00000474981.1:n.940A>C
ENST00000544051.5:c.*596A>C	ENSP00000438079.1:n.*596A>C
ENST00000545712.6:c.715A>C	ENSP00000445920.1:p.Met239Leu
NM_052845.3:c.715A>C	NP_443077.1:p.Met239Leu
NR_038118.1:n.875A>C
XM_011538266.1:c.*62A>C	XP_011536568.1:n.*62A>C
XM_011538267.1:c.*62A>C	XP_011536569.1:n.*62A>C
XM_011538268.1:c.442A>C	XP_011536570.1:p.Met148Leu
XM_011538269.1:c.439A>C	XP_011536571.1:p.Met147Leu
XM_011538267.3:c.*62A>C	XP_011536569.1:n.*62A>C
XM_011538268.2:c.442A>C	XP_011536570.1:p.Met148Leu
XM_011538269.2:c.439A>C	XP_011536571.1:p.Met147Leu
NM_052845.4:c.715A>C MANE Select	NP_443077.1:p.Met239Leu
NR_038118.2:n.826A>C