Canonical Allele Identifier: CA10617131

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145657806T>A , CM000666.2:g.145657806T>A	GRCh38
NC_000004.11:g.146578958T>A , CM000666.1:g.146578958T>A	GRCh37
NC_000004.10:g.146798408T>A	NCBI36
NG_007536.1:g.43509T>A
NG_007536.2:g.63765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648388.1:c.*2372T>A	ENSP00000497046.1:n.*2372T>A
ENST00000649156.2:c.*2372T>A MANE Select	ENSP00000497008.1:n.*2372T>A
ENST00000281317.9:c.*2372T>A	ENSP00000281317.5:n.*2372T>A
NM_172250.2:c.*2372T>A	NP_758454.1:n.*2372T>A
XM_011531684.1:c.*2372T>A	XP_011529986.1:n.*2372T>A
XM_011531685.1:c.*2372T>A	XP_011529987.1:n.*2372T>A
XM_011531686.1:c.*2372T>A	XP_011529988.1:n.*2372T>A
NM_172250.3:c.*2372T>A MANE Select	NP_758454.1:n.*2372T>A
XM_011531684.3:c.*2372T>A	XP_011529986.1:n.*2372T>A
XM_011531685.2:c.*2372T>A	XP_011529987.1:n.*2372T>A
XM_011531686.2:c.*2372T>A	XP_011529988.1:n.*2372T>A
NM_001375644.1:c.*2372T>A	NP_001362573.1:n.*2372T>A