Canonical Allele Identifier: CA358355972

Gene: MMAA

Linked Data

• gnomAD v4: 4-145646064-G-A
• MyVariant Identifiers: chr4:g.146567216G>A (hg19) ; chr4:g.145646064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646064G>A , CM000666.2:g.145646064G>A	GRCh38
NC_000004.11:g.146567216G>A , CM000666.1:g.146567216G>A	GRCh37
NC_000004.10:g.146786666G>A	NCBI36
NG_007536.1:g.31767G>A
NG_007536.2:g.52023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.641G>A	ENSP00000442284.3:p.Arg214Lys
ENST00000647947.1:c.*425G>A	ENSP00000496781.1:n.*425G>A
ENST00000648388.1:c.641G>A	ENSP00000497046.1:p.Arg214Lys
ENST00000649156.2:c.641G>A MANE Select	ENSP00000497008.1:p.Arg214Lys
ENST00000649173.1:c.641G>A	ENSP00000497871.1:p.Arg214Lys
ENST00000649704.1:c.641G>A	ENSP00000497680.1:p.Arg214Lys
ENST00000679563.1:c.641G>A	ENSP00000506503.1:p.Arg214Lys
ENST00000679930.1:c.*160G>A	ENSP00000506293.1:n.*160G>A
ENST00000281317.9:c.641G>A	ENSP00000281317.5:p.Arg214Lys
ENST00000506919.1:n.1129G>A
ENST00000511969.4:c.641G>A	ENSP00000427422.1:p.Arg214Lys
ENST00000541599.4:c.641G>A	ENSP00000442284.2:p.Arg214Lys
NM_172250.2:c.641G>A	NP_758454.1:p.Arg214Lys
XM_011531684.1:c.641G>A	XP_011529986.1:p.Arg214Lys
XM_011531685.1:c.641G>A	XP_011529987.1:p.Arg214Lys
XM_011531686.1:c.146G>A	XP_011529988.1:p.Arg49Lys
NM_172250.3:c.641G>A MANE Select	NP_758454.1:p.Arg214Lys
XM_011531684.3:c.641G>A	XP_011529986.1:p.Arg214Lys
XM_011531685.2:c.641G>A	XP_011529987.1:p.Arg214Lys
XM_011531686.2:c.146G>A	XP_011529988.1:p.Arg49Lys
NM_001375644.1:c.641G>A	NP_001362573.1:p.Arg214Lys