Canonical Allele Identifier: CA3095354

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2164461
• ClinVar RCV Id: RCV003082112
• dbSNP Id: rs565742386
• ExAC: 4:146576412 G / A
• gnomAD v2: 4-146576412-G-A
• gnomAD v3: 4-145655260-G-A
• gnomAD v4: 4-145655260-G-A
• MyVariant Identifiers: chr4:g.146576412G>A (hg19) ; chr4:g.145655260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655260G>A , CM000666.2:g.145655260G>A	GRCh38
NC_000004.11:g.146576412G>A , CM000666.1:g.146576412G>A	GRCh37
NC_000004.10:g.146795862G>A	NCBI36
NG_007536.1:g.40963G>A
NG_007536.2:g.61219G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.1083G>A	ENSP00000442284.3:p.Lys361=
ENST00000647947.1:c.*867G>A	ENSP00000496781.1:n.*867G>A
ENST00000648388.1:c.1083G>A	ENSP00000497046.1:p.Lys361=
ENST00000649156.2:c.1083G>A MANE Select	ENSP00000497008.1:p.Lys361=
ENST00000649173.1:c.1017G>A	ENSP00000497871.1:p.Lys339=
ENST00000649704.1:c.1083G>A	ENSP00000497680.1:p.Lys361=
ENST00000679563.1:c.1083G>A	ENSP00000506503.1:p.Lys361=
ENST00000679930.1:c.*602G>A	ENSP00000506293.1:n.*602G>A
ENST00000281317.9:c.1083G>A	ENSP00000281317.5:p.Lys361=
ENST00000503730.1:n.493G>A
ENST00000511969.4:c.*214G>A	ENSP00000427422.1:n.*214G>A
ENST00000541599.4:c.1083G>A	ENSP00000442284.2:p.Lys361=
NM_172250.2:c.1083G>A	NP_758454.1:p.Lys361=
XM_011531684.1:c.1083G>A	XP_011529986.1:p.Lys361=
XM_011531685.1:c.1083G>A	XP_011529987.1:p.Lys361=
XM_011531686.1:c.588G>A	XP_011529988.1:p.Lys196=
NM_172250.3:c.1083G>A MANE Select	NP_758454.1:p.Lys361=
XM_011531684.3:c.1083G>A	XP_011529986.1:p.Lys361=
XM_011531685.2:c.1083G>A	XP_011529987.1:p.Lys361=
XM_011531686.2:c.588G>A	XP_011529988.1:p.Lys196=
NM_001375644.1:c.1083G>A	NP_001362573.1:p.Lys361=