Canonical Allele Identifier: CA358345801

Gene: MMAA

Linked Data

• MyVariant Identifiers: chr4:g.146576420A>G (hg19) ; chr4:g.145655268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655268A>G , CM000666.2:g.145655268A>G	GRCh38
NC_000004.11:g.146576420A>G , CM000666.1:g.146576420A>G	GRCh37
NC_000004.10:g.146795870A>G	NCBI36
NG_007536.1:g.40971A>G
NG_007536.2:g.61227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1091A>G	ENSP00000442284.3:p.Lys364Arg
ENST00000647947.1:c.*875A>G	ENSP00000496781.1:n.*875A>G
ENST00000648388.1:c.1091A>G	ENSP00000497046.1:p.Lys364Arg
ENST00000649156.2:c.1091A>G MANE Select	ENSP00000497008.1:p.Lys364Arg
ENST00000649173.1:c.1025A>G	ENSP00000497871.1:p.Lys342Arg
ENST00000649704.1:c.1091A>G	ENSP00000497680.1:p.Lys364Arg
ENST00000679563.1:c.1091A>G	ENSP00000506503.1:p.Lys364Arg
ENST00000679930.1:c.*610A>G	ENSP00000506293.1:n.*610A>G
ENST00000281317.9:c.1091A>G	ENSP00000281317.5:p.Lys364Arg
ENST00000503730.1:n.501A>G
ENST00000511969.4:c.*222A>G	ENSP00000427422.1:n.*222A>G
ENST00000541599.4:c.1091A>G	ENSP00000442284.2:p.Lys364Arg
NM_172250.2:c.1091A>G	NP_758454.1:p.Lys364Arg
XM_011531684.1:c.1091A>G	XP_011529986.1:p.Lys364Arg
XM_011531685.1:c.1091A>G	XP_011529987.1:p.Lys364Arg
XM_011531686.1:c.596A>G	XP_011529988.1:p.Lys199Arg
NM_172250.3:c.1091A>G MANE Select	NP_758454.1:p.Lys364Arg
XM_011531684.3:c.1091A>G	XP_011529986.1:p.Lys364Arg
XM_011531685.2:c.1091A>G	XP_011529987.1:p.Lys364Arg
XM_011531686.2:c.596A>G	XP_011529988.1:p.Lys199Arg
NM_001375644.1:c.1091A>G	NP_001362573.1:p.Lys364Arg