Canonical Allele Identifier: CA358344968

Gene: MMAA

Linked Data

• MyVariant Identifiers: chr4:g.146576334C>G (hg19) ; chr4:g.145655182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655182C>G , CM000666.2:g.145655182C>G	GRCh38
NC_000004.11:g.146576334C>G , CM000666.1:g.146576334C>G	GRCh37
NC_000004.10:g.146795784C>G	NCBI36
NG_007536.1:g.40885C>G
NG_007536.2:g.61141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1005C>G	ENSP00000442284.3:p.Ile335Met
ENST00000647947.1:c.*789C>G	ENSP00000496781.1:n.*789C>G
ENST00000648388.1:c.1005C>G	ENSP00000497046.1:p.Ile335Met
ENST00000649156.2:c.1005C>G MANE Select	ENSP00000497008.1:p.Ile335Met
ENST00000649173.1:c.939C>G	ENSP00000497871.1:p.Ile313Met
ENST00000649704.1:c.1005C>G	ENSP00000497680.1:p.Ile335Met
ENST00000679563.1:c.1005C>G	ENSP00000506503.1:p.Ile335Met
ENST00000679930.1:c.*524C>G	ENSP00000506293.1:n.*524C>G
ENST00000281317.9:c.1005C>G	ENSP00000281317.5:p.Ile335Met
ENST00000503730.1:n.415C>G
ENST00000511969.4:c.*136C>G	ENSP00000427422.1:n.*136C>G
ENST00000541599.4:c.1005C>G	ENSP00000442284.2:p.Ile335Met
NM_172250.2:c.1005C>G	NP_758454.1:p.Ile335Met
XM_011531684.1:c.1005C>G	XP_011529986.1:p.Ile335Met
XM_011531685.1:c.1005C>G	XP_011529987.1:p.Ile335Met
XM_011531686.1:c.510C>G	XP_011529988.1:p.Ile170Met
NM_172250.3:c.1005C>G MANE Select	NP_758454.1:p.Ile335Met
XM_011531684.3:c.1005C>G	XP_011529986.1:p.Ile335Met
XM_011531685.2:c.1005C>G	XP_011529987.1:p.Ile335Met
XM_011531686.2:c.510C>G	XP_011529988.1:p.Ile170Met
NM_001375644.1:c.1005C>G	NP_001362573.1:p.Ile335Met