Canonical Allele Identifier: CA3095196

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145642496C>T , CM000666.2:g.145642496C>T	GRCh38
NC_000004.11:g.146563648C>T , CM000666.1:g.146563648C>T	GRCh37
NC_000004.10:g.146783098C>T	NCBI36
NG_007536.1:g.28199C>T
NG_007536.2:g.48455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.562+11C>T	ENSP00000442284.3:n.562+11C>T
ENST00000647947.1:c.*346+11C>T	ENSP00000496781.1:n.*346+11C>T
ENST00000648388.1:c.562+11C>T	ENSP00000497046.1:n.562+11C>T
ENST00000649156.2:c.562+11C>T MANE Select	ENSP00000497008.1:n.562+11C>T
ENST00000649173.1:c.562+11C>T	ENSP00000497871.1:n.562+11C>T
ENST00000649704.1:c.562+11C>T	ENSP00000497680.1:n.562+11C>T
ENST00000679563.1:c.562+11C>T	ENSP00000506503.1:n.562+11C>T
ENST00000679930.1:c.*81+11C>T	ENSP00000506293.1:n.*81+11C>T
ENST00000281317.9:c.562+11C>T	ENSP00000281317.5:n.562+11C>T
ENST00000506919.1:n.1050+11C>T
ENST00000511969.4:c.562+11C>T	ENSP00000427422.1:n.562+11C>T
ENST00000541599.4:c.562+11C>T	ENSP00000442284.2:n.562+11C>T
NM_172250.2:c.562+11C>T	NP_758454.1:n.562+11C>T
XM_011531684.1:c.562+11C>T	XP_011529986.1:n.562+11C>T
XM_011531685.1:c.562+11C>T	XP_011529987.1:n.562+11C>T
XM_011531686.1:c.67+11C>T	XP_011529988.1:n.67+11C>T
NM_172250.3:c.562+11C>T MANE Select	NP_758454.1:n.562+11C>T
XM_011531684.3:c.562+11C>T	XP_011529986.1:n.562+11C>T
XM_011531685.2:c.562+11C>T	XP_011529987.1:n.562+11C>T
XM_011531686.2:c.67+11C>T	XP_011529988.1:n.67+11C>T
NM_001375644.1:c.562+11C>T	NP_001362573.1:n.562+11C>T