Canonical Allele Identifier: CA441716030

Gene: MMAA

Linked Data

• ClinVar Variation Id: 1083032
• ClinVar RCV Id: RCV001399558
• dbSNP Id: rs2126617212
• gnomAD v4: 4-145639305-C-T
• MyVariant Identifiers: chr4:g.146560457C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639305C>T , CM000666.2:g.145639305C>T	GRCh38
NC_000004.11:g.146560457C>T , CM000666.1:g.146560457C>T	GRCh37
NC_000004.10:g.146779907C>T	NCBI36
NG_007536.1:g.25008C>T
NG_007536.2:g.45264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.166C>T	ENSP00000442284.3:p.Leu56=
ENST00000647947.1:c.166C>T	ENSP00000496781.1:p.Leu56=
ENST00000648388.1:c.166C>T	ENSP00000497046.1:p.Leu56=
ENST00000649156.2:c.166C>T MANE Select	ENSP00000497008.1:p.Leu56=
ENST00000649173.1:c.166C>T	ENSP00000497871.1:p.Leu56=
ENST00000649704.1:c.166C>T	ENSP00000497680.1:p.Leu56=
ENST00000679563.1:c.166C>T	ENSP00000506503.1:p.Leu56=
ENST00000679930.1:c.166C>T	ENSP00000506293.1:p.Leu56=
ENST00000281317.9:c.166C>T	ENSP00000281317.5:p.Leu56=
ENST00000506919.1:n.654C>T
ENST00000511969.4:c.166C>T	ENSP00000427422.1:p.Leu56=
ENST00000541599.4:c.166C>T	ENSP00000442284.2:p.Leu56=
NM_172250.2:c.166C>T	NP_758454.1:p.Leu56=
XM_011531684.1:c.166C>T	XP_011529986.1:p.Leu56=
XM_011531685.1:c.166C>T	XP_011529987.1:p.Leu56=
NM_172250.3:c.166C>T MANE Select	NP_758454.1:p.Leu56=
XM_011531684.3:c.166C>T	XP_011529986.1:p.Leu56=
XM_011531685.2:c.166C>T	XP_011529987.1:p.Leu56=
XM_011531686.2:c.-618C>T	XP_011529988.1:n.-618C>T
NM_001375644.1:c.166C>T	NP_001362573.1:p.Leu56=