Canonical Allele Identifier: CA2620808866

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560927-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560927G>A , CM000674.2:g.109560927G>A	GRCh38
NC_000012.11:g.109998732G>A , CM000674.1:g.109998732G>A	GRCh37
NC_000012.10:g.108483115G>A	NCBI36
NG_007096.1:g.17571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+113C>T MANE Select	ENSP00000445920.1:n.584+113C>T
ENST00000537496.5:c.*149+113C>T	ENSP00000444793.1:n.*149+113C>T
ENST00000540016.5:c.428+113C>T	ENSP00000474582.1:n.428+113C>T
ENST00000541763.6:c.809+113C>T	ENSP00000474981.1:n.809+113C>T
ENST00000544051.5:c.*465+113C>T	ENSP00000438079.1:n.*465+113C>T
ENST00000545712.6:c.584+113C>T	ENSP00000445920.1:n.584+113C>T
NM_052845.3:c.584+113C>T	NP_443077.1:n.584+113C>T
NR_038118.1:n.744+113C>T
XM_011538266.1:c.429+113C>T	XP_011536568.1:n.429+113C>T
XM_011538267.1:c.429+113C>T	XP_011536569.1:n.429+113C>T
XM_011538268.1:c.311+113C>T	XP_011536570.1:n.311+113C>T
XM_011538269.1:c.308+113C>T	XP_011536571.1:n.308+113C>T
XM_011538267.3:c.429+113C>T	XP_011536569.1:n.429+113C>T
XM_011538268.2:c.311+113C>T	XP_011536570.1:n.311+113C>T
XM_011538269.2:c.308+113C>T	XP_011536571.1:n.308+113C>T
XM_024448961.1:c.584+113C>T	XP_024304729.1:n.584+113C>T
NM_052845.4:c.584+113C>T MANE Select	NP_443077.1:n.584+113C>T
NR_038118.2:n.695+113C>T