Canonical Allele Identifier: CA358344850

Gene: MMAA

Linked Data

• gnomAD v4: 4-145655169-G-T
• MyVariant Identifiers: chr4:g.146576321G>T (hg19) ; chr4:g.145655169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655169G>T , CM000666.2:g.145655169G>T	GRCh38
NC_000004.11:g.146576321G>T , CM000666.1:g.146576321G>T	GRCh37
NC_000004.10:g.146795771G>T	NCBI36
NG_007536.1:g.40872G>T
NG_007536.2:g.61128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.992G>T	ENSP00000442284.3:p.Ser331Ile
ENST00000647947.1:c.*776G>T	ENSP00000496781.1:n.*776G>T
ENST00000648388.1:c.992G>T	ENSP00000497046.1:p.Ser331Ile
ENST00000649156.2:c.992G>T MANE Select	ENSP00000497008.1:p.Ser331Ile
ENST00000649173.1:c.926G>T	ENSP00000497871.1:p.Ser309Ile
ENST00000649704.1:c.992G>T	ENSP00000497680.1:p.Ser331Ile
ENST00000679563.1:c.992G>T	ENSP00000506503.1:p.Ser331Ile
ENST00000679930.1:c.*511G>T	ENSP00000506293.1:n.*511G>T
ENST00000281317.9:c.992G>T	ENSP00000281317.5:p.Ser331Ile
ENST00000503730.1:n.402G>T
ENST00000511969.4:c.*123G>T	ENSP00000427422.1:n.*123G>T
ENST00000541599.4:c.992G>T	ENSP00000442284.2:p.Ser331Ile
NM_172250.2:c.992G>T	NP_758454.1:p.Ser331Ile
XM_011531684.1:c.992G>T	XP_011529986.1:p.Ser331Ile
XM_011531685.1:c.992G>T	XP_011529987.1:p.Ser331Ile
XM_011531686.1:c.497G>T	XP_011529988.1:p.Ser166Ile
NM_172250.3:c.992G>T MANE Select	NP_758454.1:p.Ser331Ile
XM_011531684.3:c.992G>T	XP_011529986.1:p.Ser331Ile
XM_011531685.2:c.992G>T	XP_011529987.1:p.Ser331Ile
XM_011531686.2:c.497G>T	XP_011529988.1:p.Ser166Ile
NM_001375644.1:c.992G>T	NP_001362573.1:p.Ser331Ile