Canonical Allele Identifier: CA1139658662

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145657913G>T , CM000666.2:g.145657913G>T	GRCh38
NC_000004.11:g.146579065G>T , CM000666.1:g.146579065G>T	GRCh37
NC_000004.10:g.146798515G>T	NCBI36
NG_007536.1:g.43616G>T
NG_007536.2:g.63872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648388.1:c.*2479G>T	ENSP00000497046.1:n.*2479G>T
ENST00000649156.2:c.*2479G>T MANE Select	ENSP00000497008.1:n.*2479G>T
ENST00000281317.9:c.*2479G>T	ENSP00000281317.5:n.*2479G>T
NM_172250.2:c.*2479G>T	NP_758454.1:n.*2479G>T
XM_011531684.1:c.*2479G>T	XP_011529986.1:n.*2479G>T
XM_011531685.1:c.*2479G>T	XP_011529987.1:n.*2479G>T
XM_011531686.1:c.*2479G>T	XP_011529988.1:n.*2479G>T
NM_172250.3:c.*2479G>T MANE Select	NP_758454.1:n.*2479G>T
XM_011531684.3:c.*2479G>T	XP_011529986.1:n.*2479G>T
XM_011531685.2:c.*2479G>T	XP_011529987.1:n.*2479G>T
XM_011531686.2:c.*2479G>T	XP_011529988.1:n.*2479G>T
NM_001375644.1:c.*2479G>T	NP_001362573.1:n.*2479G>T