Canonical Allele Identifier: CA441717438

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2769828
• ClinVar RCV Id: RCV003500449
• MyVariant Identifiers: chr4:g.146576331G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655179G>C , CM000666.2:g.145655179G>C	GRCh38
NC_000004.11:g.146576331G>C , CM000666.1:g.146576331G>C	GRCh37
NC_000004.10:g.146795781G>C	NCBI36
NG_007536.1:g.40882G>C
NG_007536.2:g.61138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1002G>C	ENSP00000442284.3:p.Gly334=
ENST00000647947.1:c.*786G>C	ENSP00000496781.1:n.*786G>C
ENST00000648388.1:c.1002G>C	ENSP00000497046.1:p.Gly334=
ENST00000649156.2:c.1002G>C MANE Select	ENSP00000497008.1:p.Gly334=
ENST00000649173.1:c.936G>C	ENSP00000497871.1:p.Gly312=
ENST00000649704.1:c.1002G>C	ENSP00000497680.1:p.Gly334=
ENST00000679563.1:c.1002G>C	ENSP00000506503.1:p.Gly334=
ENST00000679930.1:c.*521G>C	ENSP00000506293.1:n.*521G>C
ENST00000281317.9:c.1002G>C	ENSP00000281317.5:p.Gly334=
ENST00000503730.1:n.412G>C
ENST00000511969.4:c.*133G>C	ENSP00000427422.1:n.*133G>C
ENST00000541599.4:c.1002G>C	ENSP00000442284.2:p.Gly334=
NM_172250.2:c.1002G>C	NP_758454.1:p.Gly334=
XM_011531684.1:c.1002G>C	XP_011529986.1:p.Gly334=
XM_011531685.1:c.1002G>C	XP_011529987.1:p.Gly334=
XM_011531686.1:c.507G>C	XP_011529988.1:p.Gly169=
NM_172250.3:c.1002G>C MANE Select	NP_758454.1:p.Gly334=
XM_011531684.3:c.1002G>C	XP_011529986.1:p.Gly334=
XM_011531685.2:c.1002G>C	XP_011529987.1:p.Gly334=
XM_011531686.2:c.507G>C	XP_011529988.1:p.Gly169=
NM_001375644.1:c.1002G>C	NP_001362573.1:p.Gly334=