Canonical Allele Identifier: CA1069116740

Gene: MMAA

Linked Data

• dbSNP Id: rs1727732560
• gnomAD v3: 4-145639824-G-C
• gnomAD v4: 4-145639824-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639824G>C , CM000666.2:g.145639824G>C	GRCh38
NC_000004.11:g.146560976G>C , CM000666.1:g.146560976G>C	GRCh37
NC_000004.10:g.146780426G>C	NCBI36
NG_007536.1:g.25527G>C
NG_007536.2:g.45783G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+246G>C	ENSP00000442284.3:n.439+246G>C
ENST00000647947.1:c.*181G>C	ENSP00000496781.1:n.*181G>C
ENST00000648388.1:c.439+246G>C	ENSP00000497046.1:n.439+246G>C
ENST00000649156.2:c.439+246G>C MANE Select	ENSP00000497008.1:n.439+246G>C
ENST00000649173.1:c.439+246G>C	ENSP00000497871.1:n.439+246G>C
ENST00000649704.1:c.439+246G>C	ENSP00000497680.1:n.439+246G>C
ENST00000679563.1:c.439+246G>C	ENSP00000506503.1:n.439+246G>C
ENST00000679930.1:c.435+250G>C	ENSP00000506293.1:n.435+250G>C
ENST00000281317.9:c.439+246G>C	ENSP00000281317.5:n.439+246G>C
ENST00000506919.1:n.927+246G>C
ENST00000511969.4:c.439+246G>C	ENSP00000427422.1:n.439+246G>C
ENST00000541599.4:c.439+246G>C	ENSP00000442284.2:n.439+246G>C
NM_172250.2:c.439+246G>C	NP_758454.1:n.439+246G>C
XM_011531684.1:c.439+246G>C	XP_011529986.1:n.439+246G>C
XM_011531685.1:c.439+246G>C	XP_011529987.1:n.439+246G>C
XM_011531686.1:c.-99G>C	XP_011529988.1:n.-99G>C
NM_172250.3:c.439+246G>C MANE Select	NP_758454.1:n.439+246G>C
XM_011531684.3:c.439+246G>C	XP_011529986.1:n.439+246G>C
XM_011531685.2:c.439+246G>C	XP_011529987.1:n.439+246G>C
XM_011531686.2:c.-99G>C	XP_011529988.1:n.-99G>C
NM_001375644.1:c.439+246G>C	NP_001362573.1:n.439+246G>C