Canonical Allele Identifier: CA358355677

Gene: MMAA

Linked Data

• MyVariant Identifiers: chr4:g.146567168C>G (hg19) ; chr4:g.145646016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646016C>G , CM000666.2:g.145646016C>G	GRCh38
NC_000004.11:g.146567168C>G , CM000666.1:g.146567168C>G	GRCh37
NC_000004.10:g.146786618C>G	NCBI36
NG_007536.1:g.31719C>G
NG_007536.2:g.51975C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.593C>G	ENSP00000442284.3:p.Thr198Ser
ENST00000647947.1:c.*377C>G	ENSP00000496781.1:n.*377C>G
ENST00000648388.1:c.593C>G	ENSP00000497046.1:p.Thr198Ser
ENST00000649156.2:c.593C>G MANE Select	ENSP00000497008.1:p.Thr198Ser
ENST00000649173.1:c.593C>G	ENSP00000497871.1:p.Thr198Ser
ENST00000649704.1:c.593C>G	ENSP00000497680.1:p.Thr198Ser
ENST00000679563.1:c.593C>G	ENSP00000506503.1:p.Thr198Ser
ENST00000679930.1:c.*112C>G	ENSP00000506293.1:n.*112C>G
ENST00000281317.9:c.593C>G	ENSP00000281317.5:p.Thr198Ser
ENST00000506919.1:n.1081C>G
ENST00000511969.4:c.593C>G	ENSP00000427422.1:p.Thr198Ser
ENST00000541599.4:c.593C>G	ENSP00000442284.2:p.Thr198Ser
NM_172250.2:c.593C>G	NP_758454.1:p.Thr198Ser
XM_011531684.1:c.593C>G	XP_011529986.1:p.Thr198Ser
XM_011531685.1:c.593C>G	XP_011529987.1:p.Thr198Ser
XM_011531686.1:c.98C>G	XP_011529988.1:p.Thr33Ser
NM_172250.3:c.593C>G MANE Select	NP_758454.1:p.Thr198Ser
XM_011531684.3:c.593C>G	XP_011529986.1:p.Thr198Ser
XM_011531685.2:c.593C>G	XP_011529987.1:p.Thr198Ser
XM_011531686.2:c.98C>G	XP_011529988.1:p.Thr33Ser
NM_001375644.1:c.593C>G	NP_001362573.1:p.Thr198Ser