Canonical Allele Identifier: CA555498193

Gene: MMAA

Linked Data

• dbSNP Id: rs1194726880
• gnomAD v2: 4-146567092-C-A
• gnomAD v4: 4-145645940-C-A
• MyVariant Identifiers: chr4:g.146567092C>A (hg19) ; chr4:g.145645940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145645940C>A , CM000666.2:g.145645940C>A	GRCh38
NC_000004.11:g.146567092C>A , CM000666.1:g.146567092C>A	GRCh37
NC_000004.10:g.146786542C>A	NCBI36
NG_007536.1:g.31643C>A
NG_007536.2:g.51899C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.563-46C>A	ENSP00000442284.3:n.563-46C>A
ENST00000647947.1:c.*347-46C>A	ENSP00000496781.1:n.*347-46C>A
ENST00000648388.1:c.563-46C>A	ENSP00000497046.1:n.563-46C>A
ENST00000649156.2:c.563-46C>A MANE Select	ENSP00000497008.1:n.563-46C>A
ENST00000649173.1:c.563-46C>A	ENSP00000497871.1:n.563-46C>A
ENST00000649704.1:c.563-46C>A	ENSP00000497680.1:n.563-46C>A
ENST00000679563.1:c.563-46C>A	ENSP00000506503.1:n.563-46C>A
ENST00000679930.1:c.*82-46C>A	ENSP00000506293.1:n.*82-46C>A
ENST00000281317.9:c.563-46C>A	ENSP00000281317.5:n.563-46C>A
ENST00000506919.1:n.1051-46C>A
ENST00000511969.4:c.563-46C>A	ENSP00000427422.1:n.563-46C>A
ENST00000541599.4:c.563-46C>A	ENSP00000442284.2:n.563-46C>A
NM_172250.2:c.563-46C>A	NP_758454.1:n.563-46C>A
XM_011531684.1:c.563-46C>A	XP_011529986.1:n.563-46C>A
XM_011531685.1:c.563-46C>A	XP_011529987.1:n.563-46C>A
XM_011531686.1:c.68-46C>A	XP_011529988.1:n.68-46C>A
NM_172250.3:c.563-46C>A MANE Select	NP_758454.1:n.563-46C>A
XM_011531684.3:c.563-46C>A	XP_011529986.1:n.563-46C>A
XM_011531685.2:c.563-46C>A	XP_011529987.1:n.563-46C>A
XM_011531686.2:c.68-46C>A	XP_011529988.1:n.68-46C>A
NM_001375644.1:c.563-46C>A	NP_001362573.1:n.563-46C>A