Canonical Allele Identifier: CA788562994

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145657253C>G , CM000666.2:g.145657253C>G	GRCh38
NC_000004.11:g.146578405C>G , CM000666.1:g.146578405C>G	GRCh37
NC_000004.10:g.146797855C>G	NCBI36
NG_007536.1:g.42956C>G
NG_007536.2:g.63212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648388.1:c.*1819C>G	ENSP00000497046.1:n.*1819C>G
ENST00000649156.2:c.*1819C>G MANE Select	ENSP00000497008.1:n.*1819C>G
ENST00000679930.1:c.*2595C>G	ENSP00000506293.1:n.*2595C>G
ENST00000281317.9:c.*1819C>G	ENSP00000281317.5:n.*1819C>G
NM_172250.2:c.*1819C>G	NP_758454.1:n.*1819C>G
XM_011531684.1:c.*1819C>G	XP_011529986.1:n.*1819C>G
XM_011531685.1:c.*1819C>G	XP_011529987.1:n.*1819C>G
XM_011531686.1:c.*1819C>G	XP_011529988.1:n.*1819C>G
NM_172250.3:c.*1819C>G MANE Select	NP_758454.1:n.*1819C>G
XM_011531684.3:c.*1819C>G	XP_011529986.1:n.*1819C>G
XM_011531685.2:c.*1819C>G	XP_011529987.1:n.*1819C>G
XM_011531686.2:c.*1819C>G	XP_011529988.1:n.*1819C>G
NM_001375644.1:c.*1819C>G	NP_001362573.1:n.*1819C>G