Canonical Allele Identifier: CA347870

Gene: MMAA

Linked Data

• ClinVar Variation Id: 218976
• ClinVar RCV Id: RCV000203334 ; RCV001804942
• dbSNP Id: rs140356252
• MyVariant Identifiers: chr4:g.146567225T>A (hg19) ; chr4:g.145646073T>A (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646073T>A , CM000666.2:g.145646073T>A	GRCh38
NC_000004.11:g.146567225T>A , CM000666.1:g.146567225T>A	GRCh37
NC_000004.10:g.146786675T>A	NCBI36
NG_007536.1:g.31776T>A
NG_007536.2:g.52032T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.650T>A	ENSP00000442284.3:p.Leu217Ter
ENST00000647947.1:c.*434T>A	ENSP00000496781.1:n.*434T>A
ENST00000648388.1:c.650T>A	ENSP00000497046.1:p.Leu217Ter
ENST00000649156.2:c.650T>A MANE Select	ENSP00000497008.1:p.Leu217Ter
ENST00000649173.1:c.650T>A	ENSP00000497871.1:p.Leu217Ter
ENST00000649704.1:c.650T>A	ENSP00000497680.1:p.Leu217Ter
ENST00000679563.1:c.650T>A	ENSP00000506503.1:p.Leu217Ter
ENST00000679930.1:c.*169T>A	ENSP00000506293.1:n.*169T>A
ENST00000281317.9:c.650T>A	ENSP00000281317.5:p.Leu217Ter
ENST00000506919.1:n.1138T>A
ENST00000511969.4:c.650T>A	ENSP00000427422.1:p.Leu217Ter
ENST00000541599.4:c.650T>A	ENSP00000442284.2:p.Leu217Ter
NM_172250.2:c.650T>A	NP_758454.1:p.Leu217Ter
XM_011531684.1:c.650T>A	XP_011529986.1:p.Leu217Ter
XM_011531685.1:c.650T>A	XP_011529987.1:p.Leu217Ter
XM_011531686.1:c.155T>A	XP_011529988.1:p.Leu52Ter
NM_172250.3:c.650T>A MANE Select	NP_758454.1:p.Leu217Ter
XM_011531684.3:c.650T>A	XP_011529986.1:p.Leu217Ter
XM_011531685.2:c.650T>A	XP_011529987.1:p.Leu217Ter
XM_011531686.2:c.155T>A	XP_011529988.1:p.Leu52Ter
NM_001375644.1:c.650T>A	NP_001362573.1:p.Leu217Ter