Canonical Allele Identifier: CA1069116693

Gene: MMAA

Linked Data

• dbSNP Id: rs1727730007
• gnomAD v3: 4-145639712-G-A
• gnomAD v4: 4-145639712-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639712G>A , CM000666.2:g.145639712G>A	GRCh38
NC_000004.11:g.146560864G>A , CM000666.1:g.146560864G>A	GRCh37
NC_000004.10:g.146780314G>A	NCBI36
NG_007536.1:g.25415G>A
NG_007536.2:g.45671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+134G>A	ENSP00000442284.3:n.439+134G>A
ENST00000647947.1:c.*69G>A	ENSP00000496781.1:n.*69G>A
ENST00000648388.1:c.439+134G>A	ENSP00000497046.1:n.439+134G>A
ENST00000649156.2:c.439+134G>A MANE Select	ENSP00000497008.1:n.439+134G>A
ENST00000649173.1:c.439+134G>A	ENSP00000497871.1:n.439+134G>A
ENST00000649704.1:c.439+134G>A	ENSP00000497680.1:n.439+134G>A
ENST00000679563.1:c.439+134G>A	ENSP00000506503.1:n.439+134G>A
ENST00000679930.1:c.435+138G>A	ENSP00000506293.1:n.435+138G>A
ENST00000281317.9:c.439+134G>A	ENSP00000281317.5:n.439+134G>A
ENST00000506919.1:n.927+134G>A
ENST00000511969.4:c.439+134G>A	ENSP00000427422.1:n.439+134G>A
ENST00000541599.4:c.439+134G>A	ENSP00000442284.2:n.439+134G>A
NM_172250.2:c.439+134G>A	NP_758454.1:n.439+134G>A
XM_011531684.1:c.439+134G>A	XP_011529986.1:n.439+134G>A
XM_011531685.1:c.439+134G>A	XP_011529987.1:n.439+134G>A
XM_011531686.1:c.-211G>A	XP_011529988.1:n.-211G>A
NM_172250.3:c.439+134G>A MANE Select	NP_758454.1:n.439+134G>A
XM_011531684.3:c.439+134G>A	XP_011529986.1:n.439+134G>A
XM_011531685.2:c.439+134G>A	XP_011529987.1:n.439+134G>A
XM_011531686.2:c.-211G>A	XP_011529988.1:n.-211G>A
NM_001375644.1:c.439+134G>A	NP_001362573.1:n.439+134G>A