Canonical Allele Identifier: CA358345314

Gene: MMAA

Linked Data

• dbSNP Id: rs1208927699
• MyVariant Identifiers: chr4:g.146576363T>C (hg19) ; chr4:g.145655211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655211T>C , CM000666.2:g.145655211T>C	GRCh38
NC_000004.11:g.146576363T>C , CM000666.1:g.146576363T>C	GRCh37
NC_000004.10:g.146795813T>C	NCBI36
NG_007536.1:g.40914T>C
NG_007536.2:g.61170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1034T>C	ENSP00000442284.3:p.Phe345Ser
ENST00000647947.1:c.*818T>C	ENSP00000496781.1:n.*818T>C
ENST00000648388.1:c.1034T>C	ENSP00000497046.1:p.Phe345Ser
ENST00000649156.2:c.1034T>C MANE Select	ENSP00000497008.1:p.Phe345Ser
ENST00000649173.1:c.968T>C	ENSP00000497871.1:p.Phe323Ser
ENST00000649704.1:c.1034T>C	ENSP00000497680.1:p.Phe345Ser
ENST00000679563.1:c.1034T>C	ENSP00000506503.1:p.Phe345Ser
ENST00000679930.1:c.*553T>C	ENSP00000506293.1:n.*553T>C
ENST00000281317.9:c.1034T>C	ENSP00000281317.5:p.Phe345Ser
ENST00000503730.1:n.444T>C
ENST00000511969.4:c.*165T>C	ENSP00000427422.1:n.*165T>C
ENST00000541599.4:c.1034T>C	ENSP00000442284.2:p.Phe345Ser
NM_172250.2:c.1034T>C	NP_758454.1:p.Phe345Ser
XM_011531684.1:c.1034T>C	XP_011529986.1:p.Phe345Ser
XM_011531685.1:c.1034T>C	XP_011529987.1:p.Phe345Ser
XM_011531686.1:c.539T>C	XP_011529988.1:p.Phe180Ser
NM_172250.3:c.1034T>C MANE Select	NP_758454.1:p.Phe345Ser
XM_011531684.3:c.1034T>C	XP_011529986.1:p.Phe345Ser
XM_011531685.2:c.1034T>C	XP_011529987.1:p.Phe345Ser
XM_011531686.2:c.539T>C	XP_011529988.1:p.Phe180Ser
NM_001375644.1:c.1034T>C	NP_001362573.1:p.Phe345Ser